CN108085384A - Heredity angiocardiopathy detection method - Google Patents
Heredity angiocardiopathy detection method Download PDFInfo
- Publication number
- CN108085384A CN108085384A CN201810132395.9A CN201810132395A CN108085384A CN 108085384 A CN108085384 A CN 108085384A CN 201810132395 A CN201810132395 A CN 201810132395A CN 108085384 A CN108085384 A CN 108085384A
- Authority
- CN
- China
- Prior art keywords
- seq
- sample
- site
- low frequency
- angiocardiopathy
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
Abstract
Heredity angiocardiopathy detection method disclosed by the invention, including：Collecting sample；The hereditary variation site in the sample is detected, the hereditary variation site, on selected gene, the selected gene includes：One or more of MYBPC3, MYH7, TNN13, LMNA, MYH6, MYH7, DSC2, DSG2, DSP, ACTC1, DES, one or more of KCNE1, KCNE2, KCNH2, SCN5A, CACNA1C, KCNQ1, RYR2, CALM1, CASQ2, GJA5, one or more of FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, COL3A1, EFEMP2, ELN, NOTCH1, one or more of TBX5, JAG1, NKX2 5, one or more of one or more of LDLR, APOB, APOE, FBN2, TBX3；According to the hereditary variation site, angiocardiopathy gene and the potential risk of cardiovascular diseases entrained by model judgement sample are inferred by angiocardiopathy.
Description
Technical field
The present invention relates to biological technical field, more particularly to a kind of heredity angiocardiopathy detection method.
Background technology
In current existing genetic test product, the panel for being related to angiocardiopathy only has two or three of sites or can only
The one of which disease in disease of cardiovascular system is detected, and the known related locus referred to is only only with reference to one or two document.Its
False positive rate is high, can not almost be applied for diagnosis.
The content of the invention
To solve problem above, the present invention provides a kind of heredity angiocardiopathy detection method, including step：
Collecting sample；
Detect the hereditary variation site in the sample, the hereditary variation site, on selected gene, the choosing
Fixed gene includes：One in MYBPC3, MYH7, TNN13, LMNA, MYH6, MYH7, DSC2, DSG2, DSP, ACTC1, DES
Or it is multiple, one in KCNE1, KCNE2, KCNH2, SCN5A, CACNA1C, KCNQ1, RYR2, CALM1, CASQ2, GJA5 or
It is multiple, one or more of FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, COL3A1, EFEMP2, ELN, NOTCH1,
One or more of one or more of TBX5, JAG1, NKX2-5, LDLR, APOB, APOE, one in FBN2, TBX3
It is or multiple；
According to the hereditary variation site, the angiocardiopathy entrained by model judgement sample is inferred by angiocardiopathy
Gene and potential risk of cardiovascular diseases.
Preferably, the sample is saliva sample.
Preferably, the angiocardiopathy infers model, and construction method is：
Training dataset is built, the training dataset includes argument data and dependent variable data；
Grader is trained by machine learning, angiocardiopathy is obtained and infers model；
Wherein,
Argument data includes following one or more：
Based on the first low frequency mutational site incidence that thousand human genome databases are calculated,
Based on the second low frequency mutational site incidence that ExAc databases are calculated,
Incidence based on the 3rd low frequency mutational site that local data base is calculated,
It is dashed forward by the first low frequency mutational site incidence and/or the second low frequency mutational site incidence and/or the 3rd low frequency
Become the sample homozygous mutation number of loci after the filtering of site incidence,
It is dashed forward by the first low frequency mutational site incidence and/or the second low frequency mutational site incidence and/or the 3rd low frequency
Become the sample heterozygous mutant number of loci after the filtering of site incidence,
It is determined as the homozygous mutation number of loci in high-risk mutational site according to public database, the public database includes
One or more of ClinVar databases, online mankind's Mendelian inheritance database, human mutation database,
It is determined as the heterozygous mutant number of loci in high-risk mutational site according to public database, the public database includes
One or more of ClinVar databases, online mankind's Mendelian inheritance database, human mutation database,
Where the homozygous mutation site in high-risk mutational site and heterozygous mutant site is determined as according to public database
Gene builds and is mutated relational matrix, the elements A in matrixI, jLabeled as mutation number, unmutated genetic marker is 0, is carried out
The principal component of quantity is preset in principal component analysis to Data Dimensionality Reduction, and before selecting, between the default quantity is default 1~5
Integer；
Dependent variable data are the test sample of acquisition, and the test sample includes positive sample and negative sample, the sun
Property sample and negative sample quantity not less than default first quantity, the sample includes gender, age level, smoking history
Record data.
Preferably, the hereditary variation site belongs to multiple in 206 SNP sites, and 206 SNP sites are：
BOT-rs104894363：AAATTCCTGGATTTGGGTCTGTTCGAACATGGAGAACACGTTGGAGTTGG
BOT-seq-rs777518512：
GGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAG
BOT-seq-rs794728218：
CATCACCTGTGTATCCTTCCTTGCACAGACAGCGGTAAGATCCCATGGTT
JHU_X.32408310：AAACTGATCTCATGACTTGTCAAATCAGATTGGATTTTCTGTTGGGAGGA
KCNJ2-chr17-68171587：
CAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCT
seq-rs104893869：CAGGCCACTTTCATGAAACTCCATACTATCACAGCCATTTGGTCCAATGA
seq-rs199472697.1：CTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCT
seq-rs199472698：CACAGGGCAGGCATGACTCACCGATGATGGAAATGGGCTTCCGGGCAAAG
seq-rs199472709：AGGTGCCTCCCTGGCGGTCGACGTGTAGCATCCTCAGGATCTGCAGGAAG
seq-rs199472712：CCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCA
seq-rs199472712.1：CCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCT
seq-rs199472716：GATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCC
seq-rs199472718：CGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCC
seq-rs199472719：ACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCAC
seq-rs199472724：GTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCA
seq-rs199472725：TCTCAGCCAGGTACACAAAGTACGAGGAGAAGATGAGGCCCAGGAAGCCG
seq-rs199472734：ACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCT
seq-rs199472735：CCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACG
seq-rs199472736：CTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAG
seq-rs199472751：GACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGG
seq-rs199472752：TGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAC
seq-rs199472753：CCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTG
seq-rs199472844：CTGCGCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACT
seq-rs199472845：GCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCA
seq-rs199472845.1：GCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCT
seq-rs199472847：CATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCGGGCCG
seq-rs199472852：GGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCC
seq-rs199473000：CTGAGCTCCCTGTCCTCTCCATGGCCTCCAGGGAAGAATGACATCTTTGA
seq-rs199473000.1：CTGAGCTCCCTGTCCTCTCCATGGCCTCCAGGGAAGAATGACATCTTTGC
seq-rs199473002：CCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAG
seq-rs199473004：GGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACG
seq-rs199473005：GGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGAC
seq-rs199473011：GTCCAGTGGCCCCTCCAGCCCTGAGAGCAGTGAGGATGAGGGCCCAGGCC
seq-rs199473014：CTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGG
seq-rs199473018：GAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGT
seq-rs199473022：CTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCG
seq-rs199473039：CGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCT
seq-rs199473225.1：GAAGATGAGCCAGAAGATGAGGCAGACGAGGAGGACGTTCATGATGGACC
seq-rs199473226：TCTGTCCACTTGAGGTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCC
seq-rs199473233：TCCCTCTGTCTGGTTGATGCACCTCCCAAACTTCCCCGCAAAGAGGTTCA
seq-rs199473250：CCTTGCAGTATGAAGAGCAGCCTCAGTGGGAATACAACCTCTACATGTAC
seq-rs199473253：GGTTGAAGTTGTCAATGATGACACCAATAAAGAGGTTCAGGGTGAAGAAA
seq-rs199473260：TGGGCTTCTGGGGCTTCTTGGAGCCCAGCTTCTTCATGGCATTGTAGTAC
seq-rs199473278：GGCTGCCCTGCGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACT
seq-rs199473410.1：GGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCC
seq-rs199473411：CGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAAC
seq-rs199473417：TGTGCGGCTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGAC
seq-rs199473419：CTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTTCCTGC
seq-rs199473420：CTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTTCCTGCACC
seq-rs201366610：GCTGATCTGCTGGCATCTTGCAGTTTTCTGAACTTCTCAGCTTTTTCTCA
seq-rs201366610.1：GCTGATCTGCTGGCATCTTGCAGTTTTCTGAACTTCTCAGCTTTTTCTCC
seq-rs201831933：GCAGGAGGTGGAACATAAGAAGAAGAAGCTGGAGGCGCAGGTGCAGGAGC
SEQ-rs2229109：TTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAAT
seq-rs2229109.1：TTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAAA
seq-rs267607155：GGTTATCTGGAAGTCAATGGAACTTTCGATTTGGTAGTCTTCCCTGTACC
seq-rs28928902：AACTTTGGTGGGAACCGGTAAGTCAGCAAGGGATCATCTCCATTCTGGCG
seq-rs28928902.1：AACTTTGGTGGGAACCGGTAAGTCAGCAAGGGATCATCTCCATTCTGGCA
seq-rs28928904：TGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCT
seq-rs28928905：CCACCTACGTCAATGCCAACGAGGAGGTGGTCAGCCACCCCGGCCGCATC
seq-rs28933091：TGTAGATGTTCTTCTGGAAGTCCAGTTCCTCCTTCATGGTCTGCAGCCTG
seq-rs28933396：TTCCCATCCTGCCCTGGCTCAGGGTCTCACATGCATCTCTGGTGCACAGT
seq-rs28933396.1：GGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACT
seq-rs28937318：CGGCTACACCAGCTTCGATTCCTTTGCCTGGGCCTTTCTTGCACTCTTCC
seq-rs36210423：GAGCCACCACACATCACTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTG
seq-rs3730271：CTCCAGTCCCTCATCTGAAGGTTCCCTCTCCCAGAGGCAGAGGTCGACAA
seq-rs386834236：TCCCATGGTTGGAGATGGCCTGGACAGCTCCTACAGGCCTGCGGGAGAAG
seq-rs387906567：GCGCTTCTGCAGGTCATCGGCATCGCGGAGGAGCCGCTTACGCAGCTTGC
seq-rs387906592：CCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGC
seq-rs387906606：ATTTCATTCCCCGCCTGGCCTCTCACTCACCACTGGACCAGGAAGCCCTC
seq-rs387906613：CGCACAGTGTGCATGGCGTGGCCCATGTACACCAGAGAGGGCGTGGAGAT
seq-rs387906613.1：CGCACAGTGTGCATGGCGTGGCCCATGTACACCAGAGAGGGCGTGGAGAA
seq-rs387906623：AAAAACCAGAAAGTTCTGACAATGCCGTCATGACTCACCAACGGGTAAAC
seq-rs387906660：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACA
seq-rs387906660.1：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACG
seq-rs387906660.2：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACT
seq-rs387906664：CATGAGGTGTCCACAGGGCTCAATCTTTACATCCTTATCATTTTCAGCAC
seq-rs387906665：GATCCGTACCTGCCAGGATGTAAGACAGGATGTGCACATGAGGTGTCCAC
seq-rs387906696：TTCTCTTTTTCCAGCGTTACAGTGTTTCTGCCACCTCTGTACAAAAGACA
seq-rs387906782：TTTTCTCTCCTCCCCCTTTCATTTGCAGTGGGAAATTTGGACAGGTCTTT
seq-rs387906850：GCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACA
seq-rs387906853：AGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTAC
seq-rs387906855：TCCTGTTGACATTGGAGAGCAGCCCTAGGCAGAAGCGCTCCGAATTGGAG
seq-rs387906874：TTCTCCACTTTTTATTTCAGGAGACTCCATCCTCTGCCAATGGCCCTTCC
seq-rs387907079：AGAGGAACAAAGGAAGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGG
seq-rs387907216：TCTGTGTAGGAGCCTGGATTGTCACTGGGGGTCTGCACACGGGCATCGGC
seq-rs387907218：CTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCC
seq-rs387907227：TTTTAAACTACCCTAATAGCACATCCCTCCAACCTTGGAATCTCTAACTC
seq-rs387907267：ACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTC
seq-rs387907306：GCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCA
seq-rs387907306.1：GCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCT
seq-rs387907365：AAAATTCCCCCTTTTTAATGAACTTTTCCTCTGCTGTGCTACTTAGACTC
seq-rs3918389：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGA
seq-rs3918389.1：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGC
seq-rs3918389.2：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGT
seq-rs397507465：GCGGAAACCCTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGG
seq-rs397507527.1：CCAGACACTACAACAACAGGAGTGCAAACTTCTCTACAGCCGAAAAGAGA
seq-rs397507529：CTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTACAGGGCAGGA
seq-rs397507530：TCTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTACAGGGCAGG
seq-rs397507531：AATCAAAATCTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTAC
seq-rs397507537：CCCACCTTTCTCTCTGATGATGTCAATAAGAATATCAATCACAATGAACG
seq-rs397507539：TATTCTTCATGATGTTTCCTTCGTAGGTGTTGACTGCGATATTGACGTTA
seq-rs397514506：TCCCGCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTTACC
seq-rs397514616：AACCCCTGAACACAGAGTTCAAGGCAGCCTTCGACATCTTCGTGCTGGGC
seq-rs397514716：TCTGTTCCTGTTATTTGAAGGGTCGGTGAACCCATCTATGAGCACACTTC
seq-rs397515741：AGGCACACACTTGCCCAAGCTGAAGAAGTGGGAGTGTAGCTCCTTGGTGA
seq-rs397515848：GTATTTTTGGACTATAAATGAAGTACCTGCTCCATTGGTCATGAATCCTC
seq-rs397515854：CACTGCTTCTCATAGATAACAATGAATGCACCTCTGACATCAATCTGTGC
seq-rs397516258：GACAGTCAACACCAAGAGGGTCATCCAGTACTTTGCTGTTATTGCAGCCA
seq-rs397516269：ATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGCATCTGCAGACA
seq-rs397516347：GATTGCAGATCTGACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGC
seq-rs397516349：GACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGCGGCCCACCCTGC
seq-rs397516353：GCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGATGCAGG
seq-rs397516354：CTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCT
seq-rs397516354.1：CTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCC
seq-rs397516355：CCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCT
seq-rs397517148：TAGCAATCAAGAAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAG
seq-rs397517149：CTCTTTCTCTTCCTGTAGCATTGTTACATCAAGCATCCTTTCCAGTGTAC
seq-rs397517150：AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACAT
seq-rs397517150.1：AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACAT
seq-rs397517153：TCTGCTCCTCTTTCTCTTCCTGTAGCATTGTTACATCAAGCATCCTTTCC
seq-rs397517154：AATTGGATGGCAGCATTGATATCTTTACAGTACCGGAGTACACTGGAAAC
seq-rs397517154.1：AATTGGATGGCAGCATTGATATCTTTACAGTACCGGAGTACACTGGAAAA
seq-rs397517159：AAAGACTTGTAGAATCTCAATAATTCGACTCACCACAGCTACTCTTTCTT
seq-rs398123223：GATGGCCCTCTGGGCTATCATGGCTGCTCCTTTATTCATGTCTAATGACC
seq-rs398123224：AATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTC
seq-rs398123226：ATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGG
seq-rs398123228：AGCTCTCCTTCAGGATAAGGACGTAATTGCCATCAATCAGGACCCCTTGG
seq-rs398123262：GCGGCGGTACTCACAGACCTGTTCTGCAGCCGCCGCCGCCGCTGCCGCCA
seq-rs398123368：ATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAA
seq-rs398123371：CTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGC
seq-rs398123373：AAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACC
seq-rs398123375：CCATATAGTCCCTACATATCATTACTCTGTACGTTTCATGGCTGTTGGTA
seq-rs398123378：AGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTT
seq-rs398123383：CATCTCAACTAACCTGACAGTGCATCCTTTGCAGTCACCTTCTTTTTCTC
seq-rs398123391：ATTTGGTGCAGGACATTTCAAAGCTGAGCCCTCTTGCATTGCCTTTTTCA
seq-rs398123614：GTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTC
seq-rs398123622：CCCTTGAGGGGGTTCTGCGGCCCCCAGACTCACAGCCTCCCTTGCGCCAG
seq-rs398123827：AGTGCAATATTCCACCATGGGATAGTGCATTTTATGGCCTTTTGCAACTC
seq-rs398123828：AAATTTATCCCAGGTGAACTAACTCTCACGTCAGGCTGGCGTCAAACTTA
seq-rs398123830：ATTTGGAAGCTCCTGAAGACAAGTCATTTGGCAGTTCATTGATGGAGAGT
seq-rs398123832：AGGTACTAAAAAACAAATTTCGAACCAAAAGGTATTTTGCGAAGCATCCC
seq-rs398123834：GTTCAAATATACATCAAACAAGAGTGTGTTCTGCTTTTGCTACTACTCAT
seq-rs587780272：GGACTCCGGCGACGGCGTCACCCACAACGTGCCCATTTATGAGGGCTACG
seq-rs587780490：TTTCTCTTTGTCATAGAGATCACCTTCTTCCCATTGCTCTTGGCCATATC
seq-rs587781259：CGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAG
seq-rs727503210：AGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT
seq-rs727503211：TGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTC
seq-rs727503253：CTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGC
seq-rs727504292：CTTGGGCCTCCCACATGGAGTGTGATCACTGTGGAGGTGAGCAATCCCCC
seq-rs727504295：GATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTT
seq-rs727504305：GGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTC
seq-rs730880224：GGGCCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGA
seq-rs730880224.1：GGGCCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGT
seq-rs730880396：CTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCA
seq-rs730880398：TGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCA
seq-rs730880404：GGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGA
seq-rs730880439：CCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACGTAATTGCCATCAATC
seq-rs730880440：GCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCC
seq-rs730880441：TACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGA
seq-rs730880544：TGGAGCTGACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAAGGACGGG
seq-rs730880546：CAGGCGGTGTTCAAATGTGAGGTCTCAGATGAGAATGTTCGGGGTGTGTG
seq-rs730880552：AGCCACTGCTCCCCTGCAGGGTCCACAAACTGACCATTGACGACGTCACA
seq-rs730880554：TGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGA
seq-rs730880555：TCCCCTGCAGGGTCCACAAACTGACCATTGACGACGTCACACCTGCCGAC
seq-rs730880558：TCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCT
seq-rs730880566：TCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAG
seq-rs730880576：TCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCAC
seq-rs730880578：CAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCT
seq-rs730880584：GCCGGCCCTTGGAGTGATCCAGGTTCAGGGTTAAGCTTTTCCTCCCCTCA
seq-rs730880597：TGGATGGCTTCCCTCCCTCTCTTTACCTTATTTATAGCCCAAGATTTCCT
seq-rs730880598：TACCTTATTTATAGCCCAAGATTTCCTGGTTCAAGAATGGCCTGGACCTG
seq-rs730880600：CGCATGTTCAGCAAGCAGGGAGTGTTGACTCTGGAGATTAGAAAGCCCTG
seq-rs730880603：AGAAAGCCCTGCCCCTTTGACGGGGGCATCTATGTCTGCAGGGCCACCAA
seq-rs730880736：ATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCG
seq-rs730880742：CCCCTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCT
seq-rs730880742.1：CCCCTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCA
seq-rs730880748：GATGAAGCTCTACTTCAAGATCAAGCCGCTGCTGAAGAGTGCAGAAAGAC
seq-rs730880750：TGAAGGAGGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCT
seq-rs730880756：TCCCCTCTGTTCCTCACCTTCAGGAACAAGACAACCTGGCAGATGCTGAG
seq-rs769392594：GAAGGTGGACTGAACTTTCCAGGTCCAGCTGCATTTTCAGCACATACTCT
seq-rs769392594.1：CTTGAAAGCCAATGTAGATGGCTTATTAGAAGGACTCACCTATGTCTTCA
seq-rs776595927.1：CGGGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGA
seq-rs777573018：TGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTAT
seq-rs777864641：TTCAGCCTCCAGTGGTTCAAGCAATTTTTGTATATCTGAGTTAAACTGCT
seq-rs777919630：GGGTCCTGCTCAGGTGGTGGACAAGTGGTTCAAGAGCAACGATGAGGAGG
seq-rs778220779：GTGGTCAGGGGGTCCCCTCTGTGATTCATCTCTGCCTCCCAGTGGCCAAG
seq-rs778522112：GGCCACATCCCCAGGAAGCCACCTCCTCCGCCCTGTGATGCTAGAGCACC
seq-rs779212460：TTTTGTGCTGCAGTGCTCCGTACGGGGGACCCCAGTGCCCCGGATCACTT
seq-rs779637525：TGTTTGTCAGGCAGATCTGTGACGGGATCCTCTTCATGCACAAGATGAGG
seq-rs779874042：GGTAACTGGTCTTACCGAAGGCCATTCCTATGAATTCAGAGTTGCTGCTT
seq-rs779874042.1：GGTAACTGGTCTTACCGAAGGCCATTCCTATGAATTCAGAGTTGCTGCTA
seq-rs781171206：AATCCACTGTTACCCTTGCCTGGGAAAAACCACTCTACGATGGTGGTAGC
seq-rs781444670：TCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATC
seq-rs781540455：GTCCTGCTCCTGAAGTGACATGGACCAAAGATAACATCAACCTGAAAAAC
seq-rs781590560：AGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTC
seq-rs782460555：GAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATACACCTACGACTT
seq-rs863223664：TCACAGGCATAGTGTCCAAAGAAGTCATCTCTGGGGCGGCAGAACTTATT
seq-rs9333649：GTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGC
Seq-rs9840993：TCTGGGACTGGATTCTCTGCCAATTTCCTTACAGGGATAGATTTTCAGCT
TOP-rs120074187：CTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTAC
TOP-rs137853317：CTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCC
TOP-rs199473660：AGACCACCCCCGGTGGCGGGGGCAGCAGCGCCGCCCGGAGAGTCCGGCCC
TOP-rs267606990：GCCGGGCCGAGGCCCGCGCCGGGCCCCTCGGGGCTCCTCACCTCCGCGAT
TOP-rs372381770：GCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCC
TOP-rs374470794：ACACGTCCCCCGTCCAGTGGCCGGCGTATCGGCCGTGGCCAGCAAAGGTC
X:31496350-CT：GCACTCCGCTGACTGGCAGAGAAAAATAGATGAGACCCTTGAAAGACTCC.
Some advantageous effects of the present invention can include：
By the method for the present invention, choose multiple cardiovascular related genes and carry out SNP site detection, can comment on the whole
Estimate the hereditary conditions of cardiovascular system, solve the genetic test product for assessing cardiovascular related diseases currently on the market because choosing
Take the situation of result inaccuracy caused by the SNP site number of sequencing is few or the known associated morbidity site of reference is few.So that
Testing result has clinical implications.
Other features and advantages of the present invention will be illustrated in the following description, also, partly becomes from specification
It obtains it is clear that being understood by implementing the present invention.The purpose of the present invention and other advantages can be by the explanations write
Specifically noted structure is realized and obtained in book, claims and attached drawing.
Below by drawings and examples, technical scheme is described in further detail.
Description of the drawings
Attached drawing is used for providing a further understanding of the present invention, and a part for constitution instruction, the reality with the present invention
Example is applied together for explaining the present invention, is not construed as limiting the invention.In the accompanying drawings：
Fig. 1 is a kind of flow chart of heredity angiocardiopathy detection method in the embodiment of the present invention.
Specific embodiment
The preferred embodiment of the present invention is illustrated below in conjunction with attached drawing, it should be understood that preferred reality described herein
It applies example to be merely to illustrate and explain the present invention, be not intended to limit the present invention.
Fig. 1 is a kind of flow chart of heredity angiocardiopathy detection method in the embodiment of the present invention, as shown in Figure 1, bag
Include step：
Step S101, collecting sample；
Step S102, the hereditary variation site in the sample, the hereditary variation site, positioned at selected gene are detected
On, the selected gene includes：MYBPC3、MYH7、TNN13、LMNA、MYH6、MYH7、DSC2、DSG2、DSP、ACTC1、
One or more of DES, KCNE1, KCNE2, KCNH2, SCN5A, CACNA1C, KCNQ1, RYR2, CALM1, CASQ2, GJA5
One or more of, one in FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, COL3A1, EFEMP2, ELN, NOTCH1
One or more of it is a or multiple, one or more of TBX5, JAG1, NKX2-5, LDLR, APOB, APOE, FBN2,
One or more of TBX3；
Step S103, according to the hereditary variation site, inferred by angiocardiopathy entrained by model judgement sample
Angiocardiopathy gene and potential risk of cardiovascular diseases.
Method provided by the invention, by detection with cardiomyopathy (corresponding gene M YBPC3, MYH7, TNN13, LMNA,
MYH6, MYH7, DSC2, DSG2, DSP, ACTC1, DES etc.), arrhythmia cordis (corresponding gene KCNE1, KCNE2, KCNH2,
SCN5A, CACNA1C, KCNQ1, RYR2, CALM1, CASQ2, GJA5 etc.), aortopathy (corresponding gene FBN1, TGFBR1,
TGFBR2, SMAD3, ACTA2, COL3A1, EFEMP2, ELN, NOTCH1 etc.), congenital heart disease (corresponding gene TBX5,
JAG1, NKX2-5 etc.), hyperlipidemia (corresponding gene LDLR, APOB, APOE etc.) and structural heart disease (corresponding gene FBN2,
TBX3 etc.) related gene hereditary variation site, the painstaking effort entrained by model judgement sample are being inferred by angiocardiopathy
The gene of pipe disease so as to assess the hereditary conditions of cardiovascular system on the whole, solves and assesses the heart currently on the market
The genetic test product of relevant vascular diseases is because the SNP site number for choosing sequencing is few or with reference to known associated morbidity site pole
The situation of result inaccuracy caused by few.So that testing result has clinical implications.
In order to easy to detect, the sample is saliva sample.
Due to the use of greater number of gene and hereditary variation site, in order to make the effect of detection more preferable, it is necessary to pass through
Machine learning judged, and in order to ensure the accuracy of data, from the hereditary conditions of total evaluation cardiovascular system, may be used also
With with reference to current internationally recognized ClinVar databases, online mankind's Mendelian inheritance database, human mutation database
Mankind's disease database is waited to carry out whole synthesis analysis, in one embodiment of the invention, the angiocardiopathy infers mould
Type, construction method are：
Training dataset is built, the training dataset includes argument data and dependent variable data；
By machine learning using logistic model training graders, obtain angiocardiopathy and infer model；
Wherein,
Argument data includes following one or more：
Based on the first low frequency mutational site incidence that thousand human genome databases are calculated,
Based on the second low frequency mutational site incidence that ExAc databases are calculated,
Incidence based on the 3rd low frequency mutational site that local data base is calculated,
It is dashed forward by the first low frequency mutational site incidence and/or the second low frequency mutational site incidence and/or the 3rd low frequency
Become the sample homozygous mutation number of loci after the filtering of site incidence,
It is dashed forward by the first low frequency mutational site incidence and/or the second low frequency mutational site incidence and/or the 3rd low frequency
Become the sample heterozygous mutant number of loci after the filtering of site incidence,
It is determined as the homozygous mutation number of loci in high-risk mutational site according to public database, the public database includes
One or more of ClinVar databases, online mankind's Mendelian inheritance database, human mutation database,
It is determined as the heterozygous mutant number of loci in high-risk mutational site according to public database, the public database includes
One or more of ClinVar databases, online mankind's Mendelian inheritance database, human mutation database,
Where the homozygous mutation site in high-risk mutational site and heterozygous mutant site is determined as according to public database
Gene builds and is mutated relational matrix, the elements A in matrixI, jLabeled as mutation number, unmutated genetic marker is 0, is carried out
The principal component of quantity is preset in principal component analysis to Data Dimensionality Reduction, and before selecting, between the default quantity is default 1~5
Integer；
Dependent variable data are the test sample of acquisition, and the test sample includes positive sample and negative sample, the sun
Property sample and negative sample quantity not less than default first quantity, the sample includes gender, age level, smoking history
Record data.
In order to more fully assess the hereditary conditions of cardiovascular system, in one embodiment of the invention, the heredity
Variant sites are in 195 cardiovascular related genes, and the more apparent SNP site of 2042 SNP sites, wherein effect has
206.Can choose in 206 SNP sites multiple assesses the hereditary conditions of cardiovascular system to reach preferable
Effect, 206 SNP sites are：
BOT-rs104894363：AAATTCCTGGATTTGGGTCTGTTCGAACATGGAGAACACGTTGGAGTTGG
BOT-seq-rs777518512：
GGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAG
BOT-seq-rs794728218：
CATCACCTGTGTATCCTTCCTTGCACAGACAGCGGTAAGATCCCATGGTT
JHU_X.32408310：AAACTGATCTCATGACTTGTCAAATCAGATTGGATTTTCTGTTGGGAGGA
KCNJ2-chr17-68171587：
CAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCT
seq-rs104893869：CAGGCCACTTTCATGAAACTCCATACTATCACAGCCATTTGGTCCAATGA
seq-rs199472697.1：CTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCT
seq-rs199472698：CACAGGGCAGGCATGACTCACCGATGATGGAAATGGGCTTCCGGGCAAAG
seq-rs199472709：AGGTGCCTCCCTGGCGGTCGACGTGTAGCATCCTCAGGATCTGCAGGAAG
seq-rs199472712：CCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCA
seq-rs199472712.1：CCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCT
seq-rs199472716：GATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCC
seq-rs199472718：CGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCC
seq-rs199472719：ACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCAC
seq-rs199472724：GTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCA
seq-rs199472725：TCTCAGCCAGGTACACAAAGTACGAGGAGAAGATGAGGCCCAGGAAGCCG
seq-rs199472734：ACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCT
seq-rs199472735：CCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACG
seq-rs199472736：CTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAG
seq-rs199472751：GACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGG
seq-rs199472752：TGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAC
seq-rs199472753：CCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTG
seq-rs199472844：CTGCGCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACT
seq-rs199472845：GCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCA
seq-rs199472845.1：GCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCT
seq-rs199472847：CATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCGGGCCG
seq-rs199472852：GGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCC
seq-rs199473000：CTGAGCTCCCTGTCCTCTCCATGGCCTCCAGGGAAGAATGACATCTTTGA
seq-rs199473000.1：CTGAGCTCCCTGTCCTCTCCATGGCCTCCAGGGAAGAATGACATCTTTGC
seq-rs199473002：CCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAG
seq-rs199473004：GGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACG
seq-rs199473005：GGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGAC
seq-rs199473011：GTCCAGTGGCCCCTCCAGCCCTGAGAGCAGTGAGGATGAGGGCCCAGGCC
seq-rs199473014：CTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGG
seq-rs199473018：GAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGT
seq-rs199473022：CTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCG
seq-rs199473039：CGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCT
seq-rs199473225.1：GAAGATGAGCCAGAAGATGAGGCAGACGAGGAGGACGTTCATGATGGACC
seq-rs199473226：TCTGTCCACTTGAGGTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCC
seq-rs199473233：TCCCTCTGTCTGGTTGATGCACCTCCCAAACTTCCCCGCAAAGAGGTTCA
seq-rs199473250：CCTTGCAGTATGAAGAGCAGCCTCAGTGGGAATACAACCTCTACATGTAC
seq-rs199473253：GGTTGAAGTTGTCAATGATGACACCAATAAAGAGGTTCAGGGTGAAGAAA
seq-rs199473260：TGGGCTTCTGGGGCTTCTTGGAGCCCAGCTTCTTCATGGCATTGTAGTAC
seq-rs199473278：GGCTGCCCTGCGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACT
seq-rs199473410.1：GGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCC
seq-rs199473411：CGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAAC
seq-rs199473417：TGTGCGGCTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGAC
seq-rs199473419：CTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTTCCTGC
seq-rs199473420：CTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTTCCTGCACC
seq-rs201366610：GCTGATCTGCTGGCATCTTGCAGTTTTCTGAACTTCTCAGCTTTTTCTCA
seq-rs201366610.1：GCTGATCTGCTGGCATCTTGCAGTTTTCTGAACTTCTCAGCTTTTTCTCC
seq-rs201831933：GCAGGAGGTGGAACATAAGAAGAAGAAGCTGGAGGCGCAGGTGCAGGAGC
SEQ-rs2229109：TTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAAT
seq-rs2229109.1：TTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAAA
seq-rs267607155：GGTTATCTGGAAGTCAATGGAACTTTCGATTTGGTAGTCTTCCCTGTACC
seq-rs28928902：AACTTTGGTGGGAACCGGTAAGTCAGCAAGGGATCATCTCCATTCTGGCG
seq-rs28928902.1：AACTTTGGTGGGAACCGGTAAGTCAGCAAGGGATCATCTCCATTCTGGCA
seq-rs28928904：TGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCT
seq-rs28928905：CCACCTACGTCAATGCCAACGAGGAGGTGGTCAGCCACCCCGGCCGCATC
seq-rs28933091：TGTAGATGTTCTTCTGGAAGTCCAGTTCCTCCTTCATGGTCTGCAGCCTG
seq-rs28933396：TTCCCATCCTGCCCTGGCTCAGGGTCTCACATGCATCTCTGGTGCACAGT
seq-rs28933396.1：GGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACT
seq-rs28937318：CGGCTACACCAGCTTCGATTCCTTTGCCTGGGCCTTTCTTGCACTCTTCC
seq-rs36210423：GAGCCACCACACATCACTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTG
seq-rs3730271：CTCCAGTCCCTCATCTGAAGGTTCCCTCTCCCAGAGGCAGAGGTCGACAA
seq-rs386834236：TCCCATGGTTGGAGATGGCCTGGACAGCTCCTACAGGCCTGCGGGAGAAG
seq-rs387906567：GCGCTTCTGCAGGTCATCGGCATCGCGGAGGAGCCGCTTACGCAGCTTGC
seq-rs387906592：CCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGC
seq-rs387906606：ATTTCATTCCCCGCCTGGCCTCTCACTCACCACTGGACCAGGAAGCCCTC
seq-rs387906613：CGCACAGTGTGCATGGCGTGGCCCATGTACACCAGAGAGGGCGTGGAGAT
seq-rs387906613.1：CGCACAGTGTGCATGGCGTGGCCCATGTACACCAGAGAGGGCGTGGAGAA
seq-rs387906623：AAAAACCAGAAAGTTCTGACAATGCCGTCATGACTCACCAACGGGTAAAC
seq-rs387906660：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACA
seq-rs387906660.1：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACG
seq-rs387906660.2：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACT
seq-rs387906664：CATGAGGTGTCCACAGGGCTCAATCTTTACATCCTTATCATTTTCAGCAC
seq-rs387906665：GATCCGTACCTGCCAGGATGTAAGACAGGATGTGCACATGAGGTGTCCAC
seq-rs387906696：TTCTCTTTTTCCAGCGTTACAGTGTTTCTGCCACCTCTGTACAAAAGACA
seq-rs387906782：TTTTCTCTCCTCCCCCTTTCATTTGCAGTGGGAAATTTGGACAGGTCTTT
seq-rs387906850：GCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACA
seq-rs387906853：AGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTAC
seq-rs387906855：TCCTGTTGACATTGGAGAGCAGCCCTAGGCAGAAGCGCTCCGAATTGGAG
seq-rs387906874：TTCTCCACTTTTTATTTCAGGAGACTCCATCCTCTGCCAATGGCCCTTCC
seq-rs387907079：AGAGGAACAAAGGAAGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGG
seq-rs387907216：TCTGTGTAGGAGCCTGGATTGTCACTGGGGGTCTGCACACGGGCATCGGC
seq-rs387907218：CTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCC
seq-rs387907227：TTTTAAACTACCCTAATAGCACATCCCTCCAACCTTGGAATCTCTAACTC
seq-rs387907267：ACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTC
seq-rs387907306：GCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCA
seq-rs387907306.1：GCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCT
seq-rs387907365：AAAATTCCCCCTTTTTAATGAACTTTTCCTCTGCTGTGCTACTTAGACTC
seq-rs3918389：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGA
seq-rs3918389.1：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGC
seq-rs3918389.2：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGT
seq-rs397507465：GCGGAAACCCTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGG
seq-rs397507527.1：CCAGACACTACAACAACAGGAGTGCAAACTTCTCTACAGCCGAAAAGAGA
seq-rs397507529：CTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTACAGGGCAGGA
seq-rs397507530：TCTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTACAGGGCAGG
seq-rs397507531：AATCAAAATCTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTAC
seq-rs397507537：CCCACCTTTCTCTCTGATGATGTCAATAAGAATATCAATCACAATGAACG
seq-rs397507539：TATTCTTCATGATGTTTCCTTCGTAGGTGTTGACTGCGATATTGACGTTA
seq-rs397514506：TCCCGCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTTACC
seq-rs397514616：AACCCCTGAACACAGAGTTCAAGGCAGCCTTCGACATCTTCGTGCTGGGC
seq-rs397514716：TCTGTTCCTGTTATTTGAAGGGTCGGTGAACCCATCTATGAGCACACTTC
seq-rs397515741：AGGCACACACTTGCCCAAGCTGAAGAAGTGGGAGTGTAGCTCCTTGGTGA
seq-rs397515848：GTATTTTTGGACTATAAATGAAGTACCTGCTCCATTGGTCATGAATCCTC
seq-rs397515854：CACTGCTTCTCATAGATAACAATGAATGCACCTCTGACATCAATCTGTGC
seq-rs397516258：GACAGTCAACACCAAGAGGGTCATCCAGTACTTTGCTGTTATTGCAGCCA
seq-rs397516269：ATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGCATCTGCAGACA
seq-rs397516347：GATTGCAGATCTGACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGC
seq-rs397516349：GACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGCGGCCCACCCTGC
seq-rs397516353：GCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGATGCAGG
seq-rs397516354：CTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCT
seq-rs397516354.1：CTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCC
seq-rs397516355：CCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCT
seq-rs397517148：TAGCAATCAAGAAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAG
seq-rs397517149：CTCTTTCTCTTCCTGTAGCATTGTTACATCAAGCATCCTTTCCAGTGTAC
seq-rs397517150：AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACAT
seq-rs397517150.1：AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACAT
seq-rs397517153：TCTGCTCCTCTTTCTCTTCCTGTAGCATTGTTACATCAAGCATCCTTTCC
seq-rs397517154：AATTGGATGGCAGCATTGATATCTTTACAGTACCGGAGTACACTGGAAAC
seq-rs397517154.1：AATTGGATGGCAGCATTGATATCTTTACAGTACCGGAGTACACTGGAAAA
seq-rs397517159：AAAGACTTGTAGAATCTCAATAATTCGACTCACCACAGCTACTCTTTCTT
seq-rs398123223：GATGGCCCTCTGGGCTATCATGGCTGCTCCTTTATTCATGTCTAATGACC
seq-rs398123224：AATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTC
seq-rs398123226：ATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGG
seq-rs398123228：AGCTCTCCTTCAGGATAAGGACGTAATTGCCATCAATCAGGACCCCTTGG
seq-rs398123262：GCGGCGGTACTCACAGACCTGTTCTGCAGCCGCCGCCGCCGCTGCCGCCA
seq-rs398123368：ATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAA
seq-rs398123371：CTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGC
seq-rs398123373：AAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACC
seq-rs398123375：CCATATAGTCCCTACATATCATTACTCTGTACGTTTCATGGCTGTTGGTA
seq-rs398123378：AGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTT
seq-rs398123383：CATCTCAACTAACCTGACAGTGCATCCTTTGCAGTCACCTTCTTTTTCTC
seq-rs398123391：ATTTGGTGCAGGACATTTCAAAGCTGAGCCCTCTTGCATTGCCTTTTTCA
seq-rs398123614：GTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTC
seq-rs398123622：CCCTTGAGGGGGTTCTGCGGCCCCCAGACTCACAGCCTCCCTTGCGCCAG
seq-rs398123827：AGTGCAATATTCCACCATGGGATAGTGCATTTTATGGCCTTTTGCAACTC
seq-rs398123828：AAATTTATCCCAGGTGAACTAACTCTCACGTCAGGCTGGCGTCAAACTTA
seq-rs398123830：ATTTGGAAGCTCCTGAAGACAAGTCATTTGGCAGTTCATTGATGGAGAGT
seq-rs398123832：AGGTACTAAAAAACAAATTTCGAACCAAAAGGTATTTTGCGAAGCATCCC
seq-rs398123834：GTTCAAATATACATCAAACAAGAGTGTGTTCTGCTTTTGCTACTACTCAT
seq-rs587780272：GGACTCCGGCGACGGCGTCACCCACAACGTGCCCATTTATGAGGGCTACG
seq-rs587780490：TTTCTCTTTGTCATAGAGATCACCTTCTTCCCATTGCTCTTGGCCATATC
seq-rs587781259：CGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAG
seq-rs727503210：AGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT
seq-rs727503211：TGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTC
seq-rs727503253：CTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGC
seq-rs727504292：CTTGGGCCTCCCACATGGAGTGTGATCACTGTGGAGGTGAGCAATCCCCC
seq-rs727504295：GATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTT
seq-rs727504305：GGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTC
seq-rs730880224：GGGCCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGA
seq-rs730880224.1：GGGCCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGT
seq-rs730880396：CTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCA
seq-rs730880398：TGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCA
seq-rs730880404：GGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGA
seq-rs730880439：CCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACGTAATTGCCATCAATC
seq-rs730880440：GCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCC
seq-rs730880441：TACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGA
seq-rs730880544：TGGAGCTGACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAAGGACGGG
seq-rs730880546：CAGGCGGTGTTCAAATGTGAGGTCTCAGATGAGAATGTTCGGGGTGTGTG
seq-rs730880552：AGCCACTGCTCCCCTGCAGGGTCCACAAACTGACCATTGACGACGTCACA
seq-rs730880554：TGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGA
seq-rs730880555：TCCCCTGCAGGGTCCACAAACTGACCATTGACGACGTCACACCTGCCGAC
seq-rs730880558：TCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCT
seq-rs730880566：TCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAG
seq-rs730880576：TCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCAC
seq-rs730880578：CAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCT
seq-rs730880584：GCCGGCCCTTGGAGTGATCCAGGTTCAGGGTTAAGCTTTTCCTCCCCTCA
seq-rs730880597：TGGATGGCTTCCCTCCCTCTCTTTACCTTATTTATAGCCCAAGATTTCCT
seq-rs730880598：TACCTTATTTATAGCCCAAGATTTCCTGGTTCAAGAATGGCCTGGACCTG
seq-rs730880600：CGCATGTTCAGCAAGCAGGGAGTGTTGACTCTGGAGATTAGAAAGCCCTG
seq-rs730880603：AGAAAGCCCTGCCCCTTTGACGGGGGCATCTATGTCTGCAGGGCCACCAA
seq-rs730880736：ATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCG
seq-rs730880742：CCCCTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCT
seq-rs730880742.1：CCCCTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCA
seq-rs730880748：GATGAAGCTCTACTTCAAGATCAAGCCGCTGCTGAAGAGTGCAGAAAGAC
seq-rs730880750：TGAAGGAGGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCT
seq-rs730880756：TCCCCTCTGTTCCTCACCTTCAGGAACAAGACAACCTGGCAGATGCTGAG
seq-rs769392594：GAAGGTGGACTGAACTTTCCAGGTCCAGCTGCATTTTCAGCACATACTCT
seq-rs769392594.1：CTTGAAAGCCAATGTAGATGGCTTATTAGAAGGACTCACCTATGTCTTCA
seq-rs776595927.1：CGGGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGA
seq-rs777573018：TGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTAT
seq-rs777864641：TTCAGCCTCCAGTGGTTCAAGCAATTTTTGTATATCTGAGTTAAACTGCT
seq-rs777919630：GGGTCCTGCTCAGGTGGTGGACAAGTGGTTCAAGAGCAACGATGAGGAGG
seq-rs778220779：GTGGTCAGGGGGTCCCCTCTGTGATTCATCTCTGCCTCCCAGTGGCCAAG
seq-rs778522112：GGCCACATCCCCAGGAAGCCACCTCCTCCGCCCTGTGATGCTAGAGCACC
seq-rs779212460：TTTTGTGCTGCAGTGCTCCGTACGGGGGACCCCAGTGCCCCGGATCACTT
seq-rs779637525：TGTTTGTCAGGCAGATCTGTGACGGGATCCTCTTCATGCACAAGATGAGG
seq-rs779874042：GGTAACTGGTCTTACCGAAGGCCATTCCTATGAATTCAGAGTTGCTGCTT
seq-rs779874042.1：GGTAACTGGTCTTACCGAAGGCCATTCCTATGAATTCAGAGTTGCTGCTA
seq-rs781171206：AATCCACTGTTACCCTTGCCTGGGAAAAACCACTCTACGATGGTGGTAGC
seq-rs781444670：TCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATC
seq-rs781540455：GTCCTGCTCCTGAAGTGACATGGACCAAAGATAACATCAACCTGAAAAAC
seq-rs781590560：AGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTC
seq-rs782460555：GAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATACACCTACGACTT
seq-rs863223664：TCACAGGCATAGTGTCCAAAGAAGTCATCTCTGGGGCGGCAGAACTTATT
seq-rs9333649：GTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGC
Seq-rs9840993：TCTGGGACTGGATTCTCTGCCAATTTCCTTACAGGGATAGATTTTCAGCT
TOP-rs120074187：CTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTAC
TOP-rs137853317：CTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCC
TOP-rs199473660：AGACCACCCCCGGTGGCGGGGGCAGCAGCGCCGCCCGGAGAGTCCGGCCC
TOP-rs267606990：GCCGGGCCGAGGCCCGCGCCGGGCCCCTCGGGGCTCCTCACCTCCGCGAT
TOP-rs372381770：GCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCC
TOP-rs374470794：ACACGTCCCCCGTCCAGTGGCCGGCGTATCGGCCGTGGCCAGCAAAGGTC
X:31496350-CT：GCACTCCGCTGACTGGCAGAGAAAAATAGATGAGACCCTTGAAAGACTCC.
By the method for the present invention, choose multiple cardiovascular related genes and carry out SNP site detection, can comment on the whole
Estimate the hereditary conditions of cardiovascular system, solve the genetic test product for assessing cardiovascular related diseases currently on the market because choosing
Take the situation of result inaccuracy caused by the SNP site number of sequencing is few or the known associated morbidity site of reference is few.So that
Testing result has clinical implications.
The present invention be with reference to according to the method for the embodiment of the present invention, the flow of equipment (system) and computer program product
Figure and/or block diagram describe.It should be understood that it can be realized by computer program instructions every first-class in flowchart and/or the block diagram
The combination of flow and/or box in journey and/or box and flowchart and/or the block diagram.These computer programs can be provided
The processor of all-purpose computer, special purpose computer, Embedded Processor or other programmable data processing devices is instructed to produce
A raw machine so that the instruction performed by computer or the processor of other programmable data processing devices is generated for real
The device for the function of being specified in present one flow of flow chart or one box of multiple flows and/or block diagram or multiple boxes.
These computer program instructions, which may also be stored in, can guide computer or other programmable data processing devices with spy
Determine in the computer-readable memory that mode works so that the instruction generation being stored in the computer-readable memory includes referring to
Make the manufacture of device, the command device realize in one flow of flow chart or multiple flows and/or one box of block diagram or
The function of being specified in multiple boxes.
These computer program instructions can be also loaded into computer or other programmable data processing devices so that counted
Series of operation steps is performed on calculation machine or other programmable devices to generate computer implemented processing, so as in computer or
The instruction offer performed on other programmable devices is used to implement in one flow of flow chart or multiple flows and/or block diagram one
The step of function of being specified in a box or multiple boxes.
Obviously, various changes and modifications can be made to the invention without departing from essence of the invention by those skilled in the art
God and scope.In this way, if these modifications and changes of the present invention belongs to the scope of the claims in the present invention and its equivalent technologies
Within, then the present invention is also intended to comprising including these modification and variations.
Claims (4)
1. a kind of heredity angiocardiopathy detection method, which is characterized in that including step：
Collecting sample；
The hereditary variation site in the sample is detected, the hereditary variation site is described selected on selected gene
Gene includes：One or more in MYBPC3, MYH7, TNN13, LMNA, MYH6, MYH7, DSC2, DSG2, DSP, ACTC1, DES
It is a, one or more of KCNE1, KCNE2, KCNH2, SCN5A, CACNA1C, KCNQ1, RYR2, CALM1, CASQ2, GJA5,
One or more of FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, COL3A1, EFEMP2, ELN, NOTCH1, TBX5,
One or more of one or more of JAG1, NKX2-5, LDLR, APOB, APOE, one or more in FBN2, TBX3
It is a；
According to the hereditary variation site, the angiocardiopathy gene entrained by model judgement sample is inferred by angiocardiopathy
With potential risk of cardiovascular diseases.
2. according to the method described in claim 1, it is characterized in that, the sample is saliva sample.
3. according to the method described in claim 1, it is characterized in that, the angiocardiopathy infers model, construction method is：
Training dataset is built, the training dataset includes argument data and dependent variable data；
Grader is trained by machine learning, angiocardiopathy is obtained and infers model；
Wherein,
Argument data includes following one or more：
Based on the first low frequency mutational site incidence that thousand human genome databases are calculated,
Based on the second low frequency mutational site incidence that ExAc databases are calculated,
Incidence based on the 3rd low frequency mutational site that local data base is calculated,
Position is mutated by the first low frequency mutational site incidence and/or the second low frequency mutational site incidence and/or the 3rd low frequency
Sample homozygous mutation number of loci after point incidence filtering,
Position is mutated by the first low frequency mutational site incidence and/or the second low frequency mutational site incidence and/or the 3rd low frequency
Sample heterozygous mutant number of loci after point incidence filtering,
It is determined as the homozygous mutation number of loci in high-risk mutational site according to public database, the public database includes
One or more of ClinVar databases, online mankind's Mendelian inheritance database, human mutation database,
It is determined as the heterozygous mutant number of loci in high-risk mutational site according to public database, the public database includes
One or more of ClinVar databases, online mankind's Mendelian inheritance database, human mutation database,
By the gene where being determined as the homozygous mutation site in high-risk mutational site and heterozygous mutant site according to public database,
It builds and is mutated relational matrix, the elements A in matrixI, jLabeled as mutation number, unmutated genetic marker is 0, carries out principal component
The principal component of quantity is preset in analysis to Data Dimensionality Reduction, and before selecting, and the default quantity is the integer between default 1~5；
Dependent variable data are the test sample of acquisition, and the test sample includes positive sample and negative sample, the positive sample
Originally and the quantity of negative sample is not less than default first quantity, and the sample includes gender, age level, the record of smoking history
Data.
4. according to the method described in claim 1, it is characterized in that, the hereditary variation site, belongs in 206 SNP sites
It is multiple, 206 SNP sites are：
BOT-rs104894363：AAATTCCTGGATTTGGGTCTGTTCGAACATGGAGAACACGTTGGAGTTGG
BOT-seq-rs777518512：GGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAG
BOT-seq-rs794728218：CATCACCTGTGTATCCTTCCTTGCACAGACAGCGGTAAGATCCCATGGTT
JHU_X.32408310：AAACTGATCTCATGACTTGTCAAATCAGATTGGATTTTCTGTTGGGAGGA
KCNJ2-chr17-68171587：CAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCT
seq-rs104893869：CAGGCCACTTTCATGAAACTCCATACTATCACAGCCATTTGGTCCAATGA
seq-rs199472697.1：CTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCT
seq-rs199472698：CACAGGGCAGGCATGACTCACCGATGATGGAAATGGGCTTCCGGGCAAAG
seq-rs199472709：AGGTGCCTCCCTGGCGGTCGACGTGTAGCATCCTCAGGATCTGCAGGAAG
seq-rs199472712：CCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCA
seq-rs199472712.1：CCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCT
seq-rs199472716：GATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCC
seq-rs199472718：CGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCC
seq-rs199472719：ACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCAC
seq-rs199472724：GTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCA
seq-rs199472725：TCTCAGCCAGGTACACAAAGTACGAGGAGAAGATGAGGCCCAGGAAGCCG
seq-rs199472734：ACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCT
seq-rs199472735：CCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACG
seq-rs199472736：CTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAG
seq-rs199472751：GACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGG
seq-rs199472752：TGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAC
seq-rs199472753：CCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTG
seq-rs199472844：CTGCGCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACT
seq-rs199472845：GCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCA
seq-rs199472845.1：GCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCT
seq-rs199472847：CATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCGGGCCG
seq-rs199472852：GGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCC
seq-rs199473000：CTGAGCTCCCTGTCCTCTCCATGGCCTCCAGGGAAGAATGACATCTTTGA
seq-rs199473000.1：CTGAGCTCCCTGTCCTCTCCATGGCCTCCAGGGAAGAATGACATCTTTGC
seq-rs199473002：CCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAG
seq-rs199473004：GGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACG
seq-rs199473005：GGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGAC
seq-rs199473011：GTCCAGTGGCCCCTCCAGCCCTGAGAGCAGTGAGGATGAGGGCCCAGGCC
seq-rs199473014：CTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGG
seq-rs199473018：GAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGT
seq-rs199473022：CTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCG
seq-rs199473039：CGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCT
seq-rs199473225.1：GAAGATGAGCCAGAAGATGAGGCAGACGAGGAGGACGTTCATGATGGACC
seq-rs199473226：TCTGTCCACTTGAGGTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCC
seq-rs199473233：TCCCTCTGTCTGGTTGATGCACCTCCCAAACTTCCCCGCAAAGAGGTTCA
seq-rs199473250：CCTTGCAGTATGAAGAGCAGCCTCAGTGGGAATACAACCTCTACATGTAC
seq-rs199473253：GGTTGAAGTTGTCAATGATGACACCAATAAAGAGGTTCAGGGTGAAGAAA
seq-rs199473260：TGGGCTTCTGGGGCTTCTTGGAGCCCAGCTTCTTCATGGCATTGTAGTAC
seq-rs199473278：GGCTGCCCTGCGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACT
seq-rs199473410.1：GGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCC
seq-rs199473411：CGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAAC
seq-rs199473417：TGTGCGGCTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGAC
seq-rs199473419：CTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTTCCTGC
seq-rs199473420：CTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTTCCTGCACC
seq-rs201366610：GCTGATCTGCTGGCATCTTGCAGTTTTCTGAACTTCTCAGCTTTTTCTCA
seq-rs201366610.1：GCTGATCTGCTGGCATCTTGCAGTTTTCTGAACTTCTCAGCTTTTTCTCC
seq-rs201831933：GCAGGAGGTGGAACATAAGAAGAAGAAGCTGGAGGCGCAGGTGCAGGAGC
SEQ-rs2229109：TTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAAT
seq-rs2229109.1：TTGATTAATCATTTATCACTGTACCTTAACTTCTTTTCGAGATGGGTAAA
seq-rs267607155：GGTTATCTGGAAGTCAATGGAACTTTCGATTTGGTAGTCTTCCCTGTACC
seq-rs28928902：AACTTTGGTGGGAACCGGTAAGTCAGCAAGGGATCATCTCCATTCTGGCG
seq-rs28928902.1：AACTTTGGTGGGAACCGGTAAGTCAGCAAGGGATCATCTCCATTCTGGCA
seq-rs28928904：TGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCT
seq-rs28928905：CCACCTACGTCAATGCCAACGAGGAGGTGGTCAGCCACCCCGGCCGCATC
seq-rs28933091：TGTAGATGTTCTTCTGGAAGTCCAGTTCCTCCTTCATGGTCTGCAGCCTG
seq-rs28933396：TTCCCATCCTGCCCTGGCTCAGGGTCTCACATGCATCTCTGGTGCACAGT
seq-rs28933396.1：GGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACT
seq-rs28937318：CGGCTACACCAGCTTCGATTCCTTTGCCTGGGCCTTTCTTGCACTCTTCC
seq-rs36210423：GAGCCACCACACATCACTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTG
seq-rs3730271：CTCCAGTCCCTCATCTGAAGGTTCCCTCTCCCAGAGGCAGAGGTCGACAA
seq-rs386834236：TCCCATGGTTGGAGATGGCCTGGACAGCTCCTACAGGCCTGCGGGAGAAG
seq-rs387906567：GCGCTTCTGCAGGTCATCGGCATCGCGGAGGAGCCGCTTACGCAGCTTGC
seq-rs387906592：CCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGC
seq-rs387906606：ATTTCATTCCCCGCCTGGCCTCTCACTCACCACTGGACCAGGAAGCCCTC
seq-rs387906613：CGCACAGTGTGCATGGCGTGGCCCATGTACACCAGAGAGGGCGTGGAGAT
seq-rs387906613.1：CGCACAGTGTGCATGGCGTGGCCCATGTACACCAGAGAGGGCGTGGAGAA
seq-rs387906623：AAAAACCAGAAAGTTCTGACAATGCCGTCATGACTCACCAACGGGTAAAC
seq-rs387906660：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACA
seq-rs387906660.1：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACG
seq-rs387906660.2：CTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGGTGAAAAACT
seq-rs387906664：CATGAGGTGTCCACAGGGCTCAATCTTTACATCCTTATCATTTTCAGCAC
seq-rs387906665：GATCCGTACCTGCCAGGATGTAAGACAGGATGTGCACATGAGGTGTCCAC
seq-rs387906696：TTCTCTTTTTCCAGCGTTACAGTGTTTCTGCCACCTCTGTACAAAAGACA
seq-rs387906782：TTTTCTCTCCTCCCCCTTTCATTTGCAGTGGGAAATTTGGACAGGTCTTT
seq-rs387906850：GCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACA
seq-rs387906853：AGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTAC
seq-rs387906855：TCCTGTTGACATTGGAGAGCAGCCCTAGGCAGAAGCGCTCCGAATTGGAG
seq-rs387906874：TTCTCCACTTTTTATTTCAGGAGACTCCATCCTCTGCCAATGGCCCTTCC
seq-rs387907079：AGAGGAACAAAGGAAGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGG
seq-rs387907216：TCTGTGTAGGAGCCTGGATTGTCACTGGGGGTCTGCACACGGGCATCGGC
seq-rs387907218：CTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCC
seq-rs387907227：TTTTAAACTACCCTAATAGCACATCCCTCCAACCTTGGAATCTCTAACTC
seq-rs387907267：ACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTC
seq-rs387907306：GCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCA
seq-rs387907306.1：GCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCT
seq-rs387907365：AAAATTCCCCCTTTTTAATGAACTTTTCCTCTGCTGTGCTACTTAGACTC
seq-rs3918389：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGA
seq-rs3918389.1：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGC
seq-rs3918389.2：AGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGT
seq-rs397507465：GCGGAAACCCTGGAAAAGCAGCTTTCGACAAAAGTCACAAAATGCTAAGG
seq-rs397507527.1：CCAGACACTACAACAACAGGAGTGCAAACTTCTCTACAGCCGAAAAGAGA
seq-rs397507529：CTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTACAGGGCAGGA
seq-rs397507530：TCTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTACAGGGCAGG
seq-rs397507531：AATCAAAATCTCCAAGAGTGACTATTACTGAGCGGAATATTGATACTTAC
seq-rs397507537：CCCACCTTTCTCTCTGATGATGTCAATAAGAATATCAATCACAATGAACG
seq-rs397507539：TATTCTTCATGATGTTTCCTTCGTAGGTGTTGACTGCGATATTGACGTTA
seq-rs397514506：TCCCGCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTTACC
seq-rs397514616：AACCCCTGAACACAGAGTTCAAGGCAGCCTTCGACATCTTCGTGCTGGGC
seq-rs397514716：TCTGTTCCTGTTATTTGAAGGGTCGGTGAACCCATCTATGAGCACACTTC
seq-rs397515741：AGGCACACACTTGCCCAAGCTGAAGAAGTGGGAGTGTAGCTCCTTGGTGA
seq-rs397515848：GTATTTTTGGACTATAAATGAAGTACCTGCTCCATTGGTCATGAATCCTC
seq-rs397515854：CACTGCTTCTCATAGATAACAATGAATGCACCTCTGACATCAATCTGTGC
seq-rs397516258：GACAGTCAACACCAAGAGGGTCATCCAGTACTTTGCTGTTATTGCAGCCA
seq-rs397516269：ATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGCATCTGCAGACA
seq-rs397516347：GATTGCAGATCTGACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGC
seq-rs397516349：GACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGCGGCCCACCCTGC
seq-rs397516353：GCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGATGCAGG
seq-rs397516354：CTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCT
seq-rs397516354.1：CTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCC
seq-rs397516355：CCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCT
seq-rs397517148：TAGCAATCAAGAAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAG
seq-rs397517149：CTCTTTCTCTTCCTGTAGCATTGTTACATCAAGCATCCTTTCCAGTGTAC
seq-rs397517150：AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACAT
seq-rs397517150.1：AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACAT
seq-rs397517153：TCTGCTCCTCTTTCTCTTCCTGTAGCATTGTTACATCAAGCATCCTTTCC
seq-rs397517154：AATTGGATGGCAGCATTGATATCTTTACAGTACCGGAGTACACTGGAAAC
seq-rs397517154.1：AATTGGATGGCAGCATTGATATCTTTACAGTACCGGAGTACACTGGAAAA
seq-rs397517159：AAAGACTTGTAGAATCTCAATAATTCGACTCACCACAGCTACTCTTTCTT
seq-rs398123223：GATGGCCCTCTGGGCTATCATGGCTGCTCCTTTATTCATGTCTAATGACC
seq-rs398123224：AATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTC
seq-rs398123226：ATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGG
seq-rs398123228：AGCTCTCCTTCAGGATAAGGACGTAATTGCCATCAATCAGGACCCCTTGG
seq-rs398123262：GCGGCGGTACTCACAGACCTGTTCTGCAGCCGCCGCCGCCGCTGCCGCCA
seq-rs398123368：ATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAA
seq-rs398123371：CTTTTGGGTCTAAGTCATTCGACTGTGAAGAGAGTGGACAATGTTGGTGC
seq-rs398123373：AAGAATGGAAATATTATGGGGATGATCCTCGAGTCCATAGAACTGTGACC
seq-rs398123375：CCATATAGTCCCTACATATCATTACTCTGTACGTTTCATGGCTGTTGGTA
seq-rs398123378：AGGCAACAGGTCCTCGGGGTTTATTAAAGGAAGATGCCAAAGGCTGTCTT
seq-rs398123383：CATCTCAACTAACCTGACAGTGCATCCTTTGCAGTCACCTTCTTTTTCTC
seq-rs398123391：ATTTGGTGCAGGACATTTCAAAGCTGAGCCCTCTTGCATTGCCTTTTTCA
seq-rs398123614：GTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTC
seq-rs398123622：CCCTTGAGGGGGTTCTGCGGCCCCCAGACTCACAGCCTCCCTTGCGCCAG
seq-rs398123827：AGTGCAATATTCCACCATGGGATAGTGCATTTTATGGCCTTTTGCAACTC
seq-rs398123828：AAATTTATCCCAGGTGAACTAACTCTCACGTCAGGCTGGCGTCAAACTTA
seq-rs398123830：ATTTGGAAGCTCCTGAAGACAAGTCATTTGGCAGTTCATTGATGGAGAGT
seq-rs398123832：AGGTACTAAAAAACAAATTTCGAACCAAAAGGTATTTTGCGAAGCATCCC
seq-rs398123834：GTTCAAATATACATCAAACAAGAGTGTGTTCTGCTTTTGCTACTACTCAT
seq-rs587780272：GGACTCCGGCGACGGCGTCACCCACAACGTGCCCATTTATGAGGGCTACG
seq-rs587780490：TTTCTCTTTGTCATAGAGATCACCTTCTTCCCATTGCTCTTGGCCATATC
seq-rs587781259：CGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAG
seq-rs727503210：AGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT
seq-rs727503211：TGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTC
seq-rs727503253：CTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGC
seq-rs727504292：CTTGGGCCTCCCACATGGAGTGTGATCACTGTGGAGGTGAGCAATCCCCC
seq-rs727504295：GATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTT
seq-rs727504305：GGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTC
seq-rs730880224：GGGCCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGA
seq-rs730880224.1：GGGCCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGT
seq-rs730880396：CTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCA
seq-rs730880398：TGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCA
seq-rs730880404：GGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGA
seq-rs730880439：CCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACGTAATTGCCATCAATC
seq-rs730880440：GCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCC
seq-rs730880441：TACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGA
seq-rs730880544：TGGAGCTGACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAAGGACGGG
seq-rs730880546：CAGGCGGTGTTCAAATGTGAGGTCTCAGATGAGAATGTTCGGGGTGTGTG
seq-rs730880552：AGCCACTGCTCCCCTGCAGGGTCCACAAACTGACCATTGACGACGTCACA
seq-rs730880554：TGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGA
seq-rs730880555：TCCCCTGCAGGGTCCACAAACTGACCATTGACGACGTCACACCTGCCGAC
seq-rs730880558：TCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCT
seq-rs730880566：TCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAG
seq-rs730880576：TCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCAC
seq-rs730880578：CAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCT
seq-rs730880584：GCCGGCCCTTGGAGTGATCCAGGTTCAGGGTTAAGCTTTTCCTCCCCTCA
seq-rs730880597：TGGATGGCTTCCCTCCCTCTCTTTACCTTATTTATAGCCCAAGATTTCCT
seq-rs730880598：TACCTTATTTATAGCCCAAGATTTCCTGGTTCAAGAATGGCCTGGACCTG
seq-rs730880600：CGCATGTTCAGCAAGCAGGGAGTGTTGACTCTGGAGATTAGAAAGCCCTG
seq-rs730880603：AGAAAGCCCTGCCCCTTTGACGGGGGCATCTATGTCTGCAGGGCCACCAA
seq-rs730880736：ATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCG
seq-rs730880742：CCCCTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCT
seq-rs730880742.1：CCCCTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCA
seq-rs730880748：GATGAAGCTCTACTTCAAGATCAAGCCGCTGCTGAAGAGTGCAGAAAGAC
seq-rs730880750：TGAAGGAGGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCT
seq-rs730880756：TCCCCTCTGTTCCTCACCTTCAGGAACAAGACAACCTGGCAGATGCTGAG
seq-rs769392594：GAAGGTGGACTGAACTTTCCAGGTCCAGCTGCATTTTCAGCACATACTCT
seq-rs769392594.1：CTTGAAAGCCAATGTAGATGGCTTATTAGAAGGACTCACCTATGTCTTCA
seq-rs776595927.1：CGGGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGA
seq-rs777573018：TGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTAT
seq-rs777864641：TTCAGCCTCCAGTGGTTCAAGCAATTTTTGTATATCTGAGTTAAACTGCT
seq-rs777919630：GGGTCCTGCTCAGGTGGTGGACAAGTGGTTCAAGAGCAACGATGAGGAGG
seq-rs778220779：GTGGTCAGGGGGTCCCCTCTGTGATTCATCTCTGCCTCCCAGTGGCCAAG
seq-rs778522112：GGCCACATCCCCAGGAAGCCACCTCCTCCGCCCTGTGATGCTAGAGCACC
seq-rs779212460：TTTTGTGCTGCAGTGCTCCGTACGGGGGACCCCAGTGCCCCGGATCACTT
seq-rs779637525：TGTTTGTCAGGCAGATCTGTGACGGGATCCTCTTCATGCACAAGATGAGG
seq-rs779874042：GGTAACTGGTCTTACCGAAGGCCATTCCTATGAATTCAGAGTTGCTGCTT
seq-rs779874042.1：GGTAACTGGTCTTACCGAAGGCCATTCCTATGAATTCAGAGTTGCTGCTA
seq-rs781171206：AATCCACTGTTACCCTTGCCTGGGAAAAACCACTCTACGATGGTGGTAGC
seq-rs781444670：TCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATC
seq-rs781540455：GTCCTGCTCCTGAAGTGACATGGACCAAAGATAACATCAACCTGAAAAAC
seq-rs781590560：AGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTC
seq-rs782460555：GAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATACACCTACGACTT
seq-rs863223664：TCACAGGCATAGTGTCCAAAGAAGTCATCTCTGGGGCGGCAGAACTTATT
seq-rs9333649：GTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGC
Seq-rs9840993：TCTGGGACTGGATTCTCTGCCAATTTCCTTACAGGGATAGATTTTCAGCT
TOP-rs120074187：CTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTAC
TOP-rs137853317：CTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCC
TOP-rs199473660：AGACCACCCCCGGTGGCGGGGGCAGCAGCGCCGCCCGGAGAGTCCGGCCC
TOP-rs267606990：GCCGGGCCGAGGCCCGCGCCGGGCCCCTCGGGGCTCCTCACCTCCGCGAT
TOP-rs372381770：GCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCC
TOP-rs374470794：ACACGTCCCCCGTCCAGTGGCCGGCGTATCGGCCGTGGCCAGCAAAGGTC
X:31496350-CT：GCACTCCGCTGACTGGCAGAGAAAAATAGATGAGACCCTTGAAAGACTCC.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201810132395.9A CN108085384A (en) | 2018-02-09 | 2018-02-09 | Heredity angiocardiopathy detection method |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201810132395.9A CN108085384A (en) | 2018-02-09 | 2018-02-09 | Heredity angiocardiopathy detection method |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CN108085384A true CN108085384A (en) | 2018-05-29 |
Family
ID=62194330
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN201810132395.9A Pending CN108085384A (en) | 2018-02-09 | 2018-02-09 | Heredity angiocardiopathy detection method |
Country Status (1)
| Country | Link |
|---|---|
| CN (1) | CN108085384A (en) |
Cited By (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN109411015A (en) * | 2018-09-28 | 2019-03-01 | 深圳裕策生物科技有限公司 | Tumor mutations load detection device and storage medium based on Circulating tumor DNA |
| CN109680039A (en) * | 2018-09-30 | 2019-04-26 | 北京安智因生物技术有限公司 | A kind of construction method and kit in the genetic test library of heredity arotic disease |
| CN110178792A (en) * | 2019-05-07 | 2019-08-30 | 哈尔滨医科大学 | A kind of construction method of atherosclerosis vulnerable plaque mouse model |
| CN110863045A (en) * | 2019-12-31 | 2020-03-06 | 深圳瑞奥康晨生物科技有限公司 | Gene combination for screening hereditary heart disease and application thereof |
| CN113637739A (en) * | 2021-08-09 | 2021-11-12 | 百世诺（北京）医疗科技有限公司 | SCN5A mutant gene, application and Brugada syndrome detection kit |
| WO2024084421A1 (en) * | 2022-10-18 | 2024-04-25 | Qrgenetics Ltd. | Treatment of vascular diseases associated with genetic variations in acta2 |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN105695606A (en) * | 2016-04-07 | 2016-06-22 | 昆明理工大学 | Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy |
-
2018
- 2018-02-09 CN CN201810132395.9A patent/CN108085384A/en active Pending
Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN105695606A (en) * | 2016-04-07 | 2016-06-22 | 昆明理工大学 | Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy |
Non-Patent Citations (3)
| Title |
|---|
| JOANNAPONIŃSKA等: "Clinical Applications for Next-Generation Sequencing", 《ACADEMIC PRESS》 * |
| PREVENTIONGENETICS: "Comprehensive Cardiology Sequencing Panel with CNV Detection", 《NCBI GENETIC TESTING REGISTRY数据库》 * |
| SHIV KUMAR VISWANATHAN等: "Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage", 《PLOS ONE》 * |
Cited By (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN109411015A (en) * | 2018-09-28 | 2019-03-01 | 深圳裕策生物科技有限公司 | Tumor mutations load detection device and storage medium based on Circulating tumor DNA |
| CN109411015B (en) * | 2018-09-28 | 2020-12-22 | 深圳裕策生物科技有限公司 | Tumor mutation load detection device based on circulating tumor DNA and storage medium |
| CN109680039A (en) * | 2018-09-30 | 2019-04-26 | 北京安智因生物技术有限公司 | A kind of construction method and kit in the genetic test library of heredity arotic disease |
| CN110178792A (en) * | 2019-05-07 | 2019-08-30 | 哈尔滨医科大学 | A kind of construction method of atherosclerosis vulnerable plaque mouse model |
| CN110863045A (en) * | 2019-12-31 | 2020-03-06 | 深圳瑞奥康晨生物科技有限公司 | Gene combination for screening hereditary heart disease and application thereof |
| CN113637739A (en) * | 2021-08-09 | 2021-11-12 | 百世诺（北京）医疗科技有限公司 | SCN5A mutant gene, application and Brugada syndrome detection kit |
| CN113637739B (en) * | 2021-08-09 | 2022-02-01 | 百世诺（北京）医疗科技有限公司 | SCN5A mutant gene, application and Brugada syndrome detection kit |
| WO2024084421A1 (en) * | 2022-10-18 | 2024-04-25 | Qrgenetics Ltd. | Treatment of vascular diseases associated with genetic variations in acta2 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| CN108085384A (en) | Heredity angiocardiopathy detection method | |
| Reay et al. | Advancing the use of genome-wide association studies for drug repurposing | |
| Kim et al. | Inference of the distribution of selection coefficients for new nonsynonymous mutations using large samples | |
| CN110021364B (en) | Analysis and detection system for screening single-gene genetic disease pathogenic genes based on patient clinical symptom data and whole exome sequencing data | |
| Tataru et al. | Inference of distribution of fitness effects and proportion of adaptive substitutions from polymorphism data | |
| CN109686439B (en) | Data analysis method, system and storage medium for genetic disease gene detection | |
| Kubatko | Identifying hybridization events in the presence of coalescence via model selection | |
| EP2718862B1 (en) | Method for assembly of nucleic acid sequence data | |
| CN107194208A (en) | A kind of genetic analysis annotates method and apparatus | |
| CN108664766B (en) | Method, device, and apparatus for analyzing copy number variation, and storage medium | |
| US20150066378A1 (en) | Identifying Possible Disease-Causing Genetic Variants by Machine Learning Classification | |
| JP6312253B2 (en) | Trait prediction model creation method and trait prediction method | |
| JP2014506784A5 (en) | ||
| CN112669903B (en) | HLA typing method and equipment based on Sanger sequencing | |
| CN110246581A (en) | Assessment system based on genetic test | |
| Chen et al. | Inferring selection intensity and allele age from multilocus haplotype structure | |
| Hukku et al. | Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility | |
| CN107247890A (en) | A kind of gene data system for clinical diagnosis and prediction | |
| CN110021346A (en) | Gene Fusion and mutation detection methods and system based on RNAseq data | |
| CN111883210A (en) | Single-gene disease name recommendation method and system based on clinical features and sequence variation | |
| CN110246543A (en) | The method and computer system of single pattern detection copy number variation are utilized based on two generation sequencing technologies | |
| KR20180069651A (en) | Analysis platform for personalized medicine based personal genome map and Analysis method using thereof | |
| Pouyet et al. | Towards an improved understanding of molecular evolution: the relative roles of selection, drift, and everything in between | |
| Whitehouse et al. | Timesweeper: accurately identifying selective sweeps using population genomic time series | |
| CN108172296A (en) | A kind of method for building up of database and the Risk Forecast Method of genetic disease |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PB01 | Publication | ||
| PB01 | Publication | ||
| SE01 | Entry into force of request for substantive examination | ||
| SE01 | Entry into force of request for substantive examination | ||
| RJ01 | Rejection of invention patent application after publication |
Application publication date: 20180529 |
|
| RJ01 | Rejection of invention patent application after publication |