AU2019280867A1 - Methods for fingerprinting of biological samples - Google Patents
Methods for fingerprinting of biological samples Download PDFInfo
- Publication number
- AU2019280867A1 AU2019280867A1 AU2019280867A AU2019280867A AU2019280867A1 AU 2019280867 A1 AU2019280867 A1 AU 2019280867A1 AU 2019280867 A AU2019280867 A AU 2019280867A AU 2019280867 A AU2019280867 A AU 2019280867A AU 2019280867 A1 AU2019280867 A1 AU 2019280867A1
- Authority
- AU
- Australia
- Prior art keywords
- nucleic acid
- acid molecules
- sample
- genetic loci
- fingerprint
- 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.)
- Abandoned
Links
- 238000000034 method Methods 0.000 title claims abstract description 142
- 239000012472 biological sample Substances 0.000 title claims abstract description 105
- 239000000523 sample Substances 0.000 claims abstract description 448
- 150000007523 nucleic acids Chemical class 0.000 claims abstract description 274
- 102000039446 nucleic acids Human genes 0.000 claims abstract description 268
- 108020004707 nucleic acids Proteins 0.000 claims abstract description 268
- 230000002068 genetic effect Effects 0.000 claims abstract description 147
- 125000003729 nucleotide group Chemical group 0.000 claims abstract description 69
- 239000002773 nucleotide Substances 0.000 claims abstract description 68
- 238000012545 processing Methods 0.000 claims abstract description 60
- 102000054765 polymorphisms of proteins Human genes 0.000 claims abstract description 55
- 238000012163 sequencing technique Methods 0.000 claims description 43
- 230000035945 sensitivity Effects 0.000 claims description 21
- 206010028980 Neoplasm Diseases 0.000 claims description 18
- 108700028369 Alleles Proteins 0.000 claims description 17
- 230000003321 amplification Effects 0.000 claims description 10
- 238000005259 measurement Methods 0.000 claims description 10
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 10
- 238000012070 whole genome sequencing analysis Methods 0.000 claims description 6
- 108020004414 DNA Proteins 0.000 description 37
- 102000053602 DNA Human genes 0.000 description 37
- 230000015654 memory Effects 0.000 description 20
- 238000003860 storage Methods 0.000 description 18
- 239000008280 blood Substances 0.000 description 10
- 210000004369 blood Anatomy 0.000 description 10
- 238000004891 communication Methods 0.000 description 9
- 102000040430 polynucleotide Human genes 0.000 description 9
- 108091033319 polynucleotide Proteins 0.000 description 9
- 239000002157 polynucleotide Substances 0.000 description 9
- 238000011109 contamination Methods 0.000 description 8
- 238000002156 mixing Methods 0.000 description 8
- 238000009826 distribution Methods 0.000 description 7
- 241000282414 Homo sapiens Species 0.000 description 6
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical compound CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 6
- 238000012800 visualization Methods 0.000 description 6
- 238000004458 analytical method Methods 0.000 description 5
- 238000003556 assay Methods 0.000 description 5
- 210000000349 chromosome Anatomy 0.000 description 5
- 230000003287 optical effect Effects 0.000 description 5
- 108091034117 Oligonucleotide Proteins 0.000 description 4
- ISAKRJDGNUQOIC-UHFFFAOYSA-N Uracil Chemical compound O=C1C=CNC(=O)N1 ISAKRJDGNUQOIC-UHFFFAOYSA-N 0.000 description 4
- 210000001766 X chromosome Anatomy 0.000 description 4
- 210000002593 Y chromosome Anatomy 0.000 description 4
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 4
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 4
- 229920002477 rna polymer Polymers 0.000 description 4
- 230000008901 benefit Effects 0.000 description 3
- 230000005540 biological transmission Effects 0.000 description 3
- 238000013500 data storage Methods 0.000 description 3
- 239000012530 fluid Substances 0.000 description 3
- 210000004602 germ cell Anatomy 0.000 description 3
- 239000002777 nucleoside Substances 0.000 description 3
- 150000003833 nucleoside derivatives Chemical class 0.000 description 3
- 229940113082 thymine Drugs 0.000 description 3
- 210000001519 tissue Anatomy 0.000 description 3
- ASJSAQIRZKANQN-CRCLSJGQSA-N 2-deoxy-D-ribose Chemical compound OC[C@@H](O)[C@@H](O)CC=O ASJSAQIRZKANQN-CRCLSJGQSA-N 0.000 description 2
- KDCGOANMDULRCW-UHFFFAOYSA-N 7H-purine Chemical compound N1=CNC2=NC=NC2=C1 KDCGOANMDULRCW-UHFFFAOYSA-N 0.000 description 2
- 241000124008 Mammalia Species 0.000 description 2
- 241001465754 Metazoa Species 0.000 description 2
- 108091028043 Nucleic acid sequence Proteins 0.000 description 2
- 229920000388 Polyphosphate Polymers 0.000 description 2
- 108091028664 Ribonucleotide Proteins 0.000 description 2
- PYMYPHUHKUWMLA-LMVFSUKVSA-N Ribose Natural products OC[C@@H](O)[C@@H](O)[C@@H](O)C=O PYMYPHUHKUWMLA-LMVFSUKVSA-N 0.000 description 2
- OIRDTQYFTABQOQ-KQYNXXCUSA-N adenosine Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O OIRDTQYFTABQOQ-KQYNXXCUSA-N 0.000 description 2
- HMFHBZSHGGEWLO-UHFFFAOYSA-N alpha-D-Furanose-Ribose Natural products OCC1OC(O)C(O)C1O HMFHBZSHGGEWLO-UHFFFAOYSA-N 0.000 description 2
- 238000004364 calculation method Methods 0.000 description 2
- 201000011510 cancer Diseases 0.000 description 2
- 210000004027 cell Anatomy 0.000 description 2
- 108091092259 cell-free RNA Proteins 0.000 description 2
- 230000000295 complement effect Effects 0.000 description 2
- 238000012937 correction Methods 0.000 description 2
- 229940104302 cytosine Drugs 0.000 description 2
- SUYVUBYJARFZHO-RRKCRQDMSA-N dATP Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@H]1C[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 SUYVUBYJARFZHO-RRKCRQDMSA-N 0.000 description 2
- RGWHQCVHVJXOKC-SHYZEUOFSA-N dCTP Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](CO[P@](O)(=O)O[P@](O)(=O)OP(O)(O)=O)[C@@H](O)C1 RGWHQCVHVJXOKC-SHYZEUOFSA-N 0.000 description 2
- HAAZLUGHYHWQIW-KVQBGUIXSA-N dGTP Chemical compound C1=NC=2C(=O)NC(N)=NC=2N1[C@H]1C[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 HAAZLUGHYHWQIW-KVQBGUIXSA-N 0.000 description 2
- NHVNXKFIZYSCEB-XLPZGREQSA-N dTTP Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)C1 NHVNXKFIZYSCEB-XLPZGREQSA-N 0.000 description 2
- 238000012217 deletion Methods 0.000 description 2
- 230000037430 deletion Effects 0.000 description 2
- 239000005549 deoxyribonucleoside Substances 0.000 description 2
- 239000005547 deoxyribonucleotide Substances 0.000 description 2
- 125000002637 deoxyribonucleotide group Chemical group 0.000 description 2
- 230000007717 exclusion Effects 0.000 description 2
- 238000012165 high-throughput sequencing Methods 0.000 description 2
- 238000009396 hybridization Methods 0.000 description 2
- 238000003780 insertion Methods 0.000 description 2
- 230000037431 insertion Effects 0.000 description 2
- 238000012423 maintenance Methods 0.000 description 2
- 238000013507 mapping Methods 0.000 description 2
- 238000012986 modification Methods 0.000 description 2
- 230000004048 modification Effects 0.000 description 2
- 238000007481 next generation sequencing Methods 0.000 description 2
- 230000002093 peripheral effect Effects 0.000 description 2
- NBIIXXVUZAFLBC-UHFFFAOYSA-K phosphate Chemical compound [O-]P([O-])([O-])=O NBIIXXVUZAFLBC-UHFFFAOYSA-K 0.000 description 2
- 238000003752 polymerase chain reaction Methods 0.000 description 2
- 239000001205 polyphosphate Substances 0.000 description 2
- 235000011176 polyphosphates Nutrition 0.000 description 2
- 108090000623 proteins and genes Proteins 0.000 description 2
- 239000002336 ribonucleotide Substances 0.000 description 2
- 125000002652 ribonucleotide group Chemical group 0.000 description 2
- 239000004065 semiconductor Substances 0.000 description 2
- 229940035893 uracil Drugs 0.000 description 2
- 229930024421 Adenine Natural products 0.000 description 1
- GFFGJBXGBJISGV-UHFFFAOYSA-N Adenine Chemical compound NC1=NC=NC2=C1N=CN2 GFFGJBXGBJISGV-UHFFFAOYSA-N 0.000 description 1
- 241000271566 Aves Species 0.000 description 1
- 239000002126 C01EB10 - Adenosine Substances 0.000 description 1
- 241000282693 Cercopithecidae Species 0.000 description 1
- 208000035473 Communicable disease Diseases 0.000 description 1
- RYGMFSIKBFXOCR-UHFFFAOYSA-N Copper Chemical compound [Cu] RYGMFSIKBFXOCR-UHFFFAOYSA-N 0.000 description 1
- HMFHBZSHGGEWLO-SOOFDHNKSA-N D-ribofuranose Chemical compound OC[C@H]1OC(O)[C@H](O)[C@@H]1O HMFHBZSHGGEWLO-SOOFDHNKSA-N 0.000 description 1
- 238000001712 DNA sequencing Methods 0.000 description 1
- 241000283073 Equus caballus Species 0.000 description 1
- 241000282326 Felis catus Species 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 229910019142 PO4 Inorganic materials 0.000 description 1
- 241000282577 Pan troglodytes Species 0.000 description 1
- 241000009328 Perro Species 0.000 description 1
- 206010036790 Productive cough Diseases 0.000 description 1
- CZPWVGJYEJSRLH-UHFFFAOYSA-N Pyrimidine Chemical compound C1=CN=CN=C1 CZPWVGJYEJSRLH-UHFFFAOYSA-N 0.000 description 1
- 241000283984 Rodentia Species 0.000 description 1
- 241000282898 Sus scrofa Species 0.000 description 1
- PGAVKCOVUIYSFO-XVFCMESISA-N UTP Chemical compound O[C@@H]1[C@H](O)[C@@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O[C@H]1N1C(=O)NC(=O)C=C1 PGAVKCOVUIYSFO-XVFCMESISA-N 0.000 description 1
- 241000700605 Viruses Species 0.000 description 1
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 description 1
- 229960000643 adenine Drugs 0.000 description 1
- 229960005305 adenosine Drugs 0.000 description 1
- 150000001413 amino acids Chemical class 0.000 description 1
- 210000004381 amniotic fluid Anatomy 0.000 description 1
- 230000015572 biosynthetic process Effects 0.000 description 1
- 150000001720 carbohydrates Chemical class 0.000 description 1
- 235000014633 carbohydrates Nutrition 0.000 description 1
- 229910052799 carbon Inorganic materials 0.000 description 1
- 238000005119 centrifugation Methods 0.000 description 1
- 230000008094 contradictory effect Effects 0.000 description 1
- 201000010099 disease Diseases 0.000 description 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 230000029142 excretion Effects 0.000 description 1
- 239000003925 fat Substances 0.000 description 1
- 230000001605 fetal effect Effects 0.000 description 1
- 239000000835 fiber Substances 0.000 description 1
- 238000001914 filtration Methods 0.000 description 1
- 238000007672 fourth generation sequencing Methods 0.000 description 1
- 230000004927 fusion Effects 0.000 description 1
- 230000014509 gene expression Effects 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
- 238000010348 incorporation Methods 0.000 description 1
- 150000002500 ions Chemical class 0.000 description 1
- 210000004880 lymph fluid Anatomy 0.000 description 1
- 238000007726 management method Methods 0.000 description 1
- 238000004519 manufacturing process Methods 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 150000004712 monophosphates Chemical class 0.000 description 1
- 210000003097 mucus Anatomy 0.000 description 1
- 239000010452 phosphate Substances 0.000 description 1
- 125000002467 phosphate group Chemical group [H]OP(=O)(O[H])O[*] 0.000 description 1
- 210000002381 plasma Anatomy 0.000 description 1
- 229920001184 polypeptide Polymers 0.000 description 1
- 108090000765 processed proteins & peptides Proteins 0.000 description 1
- 102000004196 processed proteins & peptides Human genes 0.000 description 1
- 102000004169 proteins and genes Human genes 0.000 description 1
- 238000012175 pyrosequencing Methods 0.000 description 1
- 125000000548 ribosyl group Chemical group C1([C@H](O)[C@H](O)[C@H](O1)CO)* 0.000 description 1
- 210000003296 saliva Anatomy 0.000 description 1
- 238000007480 sanger sequencing Methods 0.000 description 1
- 210000000582 semen Anatomy 0.000 description 1
- 238000000926 separation method Methods 0.000 description 1
- 238000007841 sequencing by ligation Methods 0.000 description 1
- 210000002966 serum Anatomy 0.000 description 1
- 210000003765 sex chromosome Anatomy 0.000 description 1
- 239000010454 slate Substances 0.000 description 1
- 239000007787 solid Substances 0.000 description 1
- 210000003802 sputum Anatomy 0.000 description 1
- 208000024794 sputum Diseases 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 238000003786 synthesis reaction Methods 0.000 description 1
- 210000001138 tear Anatomy 0.000 description 1
- 102000055501 telomere Human genes 0.000 description 1
- 108091035539 telomere Proteins 0.000 description 1
- 210000003411 telomere Anatomy 0.000 description 1
- 239000001226 triphosphate Substances 0.000 description 1
- 235000011178 triphosphate Nutrition 0.000 description 1
- UNXRWKVEANCORM-UHFFFAOYSA-N triphosphoric acid Chemical compound OP(O)(=O)OP(O)(=O)OP(O)(O)=O UNXRWKVEANCORM-UHFFFAOYSA-N 0.000 description 1
- 229950010342 uridine triphosphate Drugs 0.000 description 1
- PGAVKCOVUIYSFO-UHFFFAOYSA-N uridine-triphosphate Natural products OC1C(O)C(COP(O)(=O)OP(O)(=O)OP(O)(O)=O)OC1N1C(=O)NC(=O)C=C1 PGAVKCOVUIYSFO-UHFFFAOYSA-N 0.000 description 1
- 210000002700 urine Anatomy 0.000 description 1
Classifications
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- 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
- C12Q1/6869—Methods for sequencing
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B35/00—ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
- G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Medical Informatics (AREA)
- Analytical Chemistry (AREA)
- Theoretical Computer Science (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Organic Chemistry (AREA)
- Molecular Biology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Genetics & Genomics (AREA)
- Biochemistry (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Data Mining & Analysis (AREA)
- General Engineering & Computer Science (AREA)
- Epidemiology (AREA)
- Public Health (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Artificial Intelligence (AREA)
- Bioethics (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Databases & Information Systems (AREA)
- Evolutionary Computation (AREA)
- Software Systems (AREA)
- Library & Information Science (AREA)
- Primary Health Care (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201862681642P | 2018-06-06 | 2018-06-06 | |
| US62/681,642 | 2018-06-06 | ||
| PCT/US2019/035871 WO2019236906A1 (en) | 2018-06-06 | 2019-06-06 | Methods for fingerprinting of biological samples |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| AU2019280867A1 true AU2019280867A1 (en) | 2021-01-07 |
Family
ID=68770618
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| AU2019280867A Abandoned AU2019280867A1 (en) | 2018-06-06 | 2019-06-06 | Methods for fingerprinting of biological samples |
Country Status (11)
| Country | Link |
|---|---|
| US (1) | US20210151126A1 (https=) |
| EP (1) | EP3791012A4 (https=) |
| JP (2) | JP2021526857A (https=) |
| KR (1) | KR20210022622A (https=) |
| CN (1) | CN112384982A (https=) |
| AU (1) | AU2019280867A1 (https=) |
| BR (1) | BR112020024646A2 (https=) |
| CA (1) | CA3101527A1 (https=) |
| IL (1) | IL279184A (https=) |
| SG (1) | SG11202011652QA (https=) |
| WO (1) | WO2019236906A1 (https=) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20230135171A1 (en) * | 2019-12-24 | 2023-05-04 | Lexent Bio, Inc. | Methods and systems for molecular disease assessment via analysis of circulating tumor dna |
| CN112349348B (zh) * | 2020-11-05 | 2023-10-13 | 北京市农林科学院 | 分子标记指纹数据的比对方法、非暂存态存储介质和装置 |
| US12518859B2 (en) * | 2023-07-26 | 2026-01-06 | Helix, Inc. | Systems and methods for providing test results of gene sequencing data on a recurring basis |
| WO2025090739A1 (en) * | 2023-10-27 | 2025-05-01 | Grail, Inc. | Systems and methods for assessing similarity between samples using genotype signatures |
Family Cites Families (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20020086289A1 (en) * | 1999-06-15 | 2002-07-04 | Don Straus | Genomic profiling: a rapid method for testing a complex biological sample for the presence of many types of organisms |
| CA2786564A1 (en) * | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| WO2012058316A1 (en) * | 2010-10-26 | 2012-05-03 | Stanford University | Non-invasive fetal genetic screening by sequencing analysis |
| KR102768285B1 (ko) * | 2013-02-14 | 2025-02-13 | 더 리전츠 오브 더 유니버시티 오브 콜로라도, 어 바디 코퍼레이트 | 간질 폐렴의 위험을 예측하는 방법 |
| CN106460062A (zh) * | 2014-05-05 | 2017-02-22 | 美敦力公司 | 用于scd、crt、crt‑d或sca治疗识别和/或选择的方法和组合物 |
-
2019
- 2019-06-06 JP JP2021518049A patent/JP2021526857A/ja not_active Withdrawn
- 2019-06-06 CN CN201980037384.5A patent/CN112384982A/zh active Pending
- 2019-06-06 EP EP19814209.3A patent/EP3791012A4/en active Pending
- 2019-06-06 AU AU2019280867A patent/AU2019280867A1/en not_active Abandoned
- 2019-06-06 KR KR1020217000329A patent/KR20210022622A/ko not_active Ceased
- 2019-06-06 BR BR112020024646-8A patent/BR112020024646A2/pt unknown
- 2019-06-06 WO PCT/US2019/035871 patent/WO2019236906A1/en not_active Ceased
- 2019-06-06 SG SG11202011652QA patent/SG11202011652QA/en unknown
- 2019-06-06 CA CA3101527A patent/CA3101527A1/en active Pending
-
2020
- 2020-12-01 US US17/108,980 patent/US20210151126A1/en active Pending
- 2020-12-03 IL IL279184A patent/IL279184A/en unknown
-
2024
- 2024-02-19 JP JP2024022736A patent/JP2024056939A/ja active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| JP2024056939A (ja) | 2024-04-23 |
| US20210151126A1 (en) | 2021-05-20 |
| SG11202011652QA (en) | 2020-12-30 |
| CN112384982A (zh) | 2021-02-19 |
| KR20210022622A (ko) | 2021-03-03 |
| BR112020024646A2 (pt) | 2021-03-02 |
| EP3791012A4 (en) | 2022-03-09 |
| WO2019236906A1 (en) | 2019-12-12 |
| IL279184A (en) | 2021-01-31 |
| EP3791012A1 (en) | 2021-03-17 |
| JP2021526857A (ja) | 2021-10-11 |
| CA3101527A1 (en) | 2019-12-12 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| KR102381477B1 (ko) | 심층 신경망에 기반한 변이체 분류자 | |
| US11972841B2 (en) | Machine learning system and method for somatic mutation discovery | |
| US20250333797A1 (en) | Normalizing tumor mutation burden | |
| US20210151126A1 (en) | Methods for fingerprinting of biological samples | |
| US12509732B2 (en) | Methods of detecting tumor progression via analysis of cell-free nucleic acids | |
| US20210358569A1 (en) | Methods and systems for assessing microsatellite instability | |
| US20220389522A1 (en) | Methods of assessing and monitoring tumor load | |
| JP2025526252A (ja) | 組換え事象を検出するための方法及びシステム | |
| JP2025028203A (ja) | 脱アミノ化に誘導される配列エラーの補正 | |
| US20220068433A1 (en) | Computational detection of copy number variation at a locus in the absence of direct measurement of the locus | |
| EP4176451A1 (en) | Methods and systems for efficient sample pooling for diagnostic testing | |
| WO2025072468A1 (en) | Methods and systems for estimating copy numbers and detecting variants |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| MK5 | Application lapsed section 142(2)(e) - patent request and compl. specification not accepted |