CA2883464A1 - Method of detecting chromosomal abnormalities - Google Patents
Method of detecting chromosomal abnormalities Download PDFInfo
- Publication number
- CA2883464A1 CA2883464A1 CA2883464A CA2883464A CA2883464A1 CA 2883464 A1 CA2883464 A1 CA 2883464A1 CA 2883464 A CA2883464 A CA 2883464A CA 2883464 A CA2883464 A CA 2883464A CA 2883464 A1 CA2883464 A1 CA 2883464A1
- Authority
- CA
- Canada
- Prior art keywords
- chromosome
- score
- sequence data
- nucleic acid
- sequencing
- 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 97
- 208000031404 Chromosome Aberrations Diseases 0.000 title claims abstract description 17
- 206010008805 Chromosomal abnormalities Diseases 0.000 title abstract description 8
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- 238000012163 sequencing technique Methods 0.000 claims description 43
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- 108020004414 DNA Proteins 0.000 claims 1
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- 239000002773 nucleotide Substances 0.000 description 12
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- 238000007622 bioinformatic analysis Methods 0.000 description 4
- 238000010348 incorporation Methods 0.000 description 4
- 230000002441 reversible effect Effects 0.000 description 4
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- 208000010543 22q11.2 deletion syndrome Diseases 0.000 description 3
- 208000000398 DiGeorge Syndrome Diseases 0.000 description 3
- 208000026928 Turner syndrome Diseases 0.000 description 3
- 238000013459 approach Methods 0.000 description 3
- 230000008901 benefit Effects 0.000 description 3
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- 238000013507 mapping Methods 0.000 description 3
- 238000003793 prenatal diagnosis Methods 0.000 description 3
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- 206010010356 Congenital anomaly Diseases 0.000 description 1
- 206010011385 Cri-du-chat syndrome Diseases 0.000 description 1
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 1
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 208000004706 Jacobsen Distal 11q Deletion Syndrome Diseases 0.000 description 1
- 208000029279 Jacobsen Syndrome Diseases 0.000 description 1
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- 201000004246 Miller-Dieker lissencephaly syndrome Diseases 0.000 description 1
- 208000035022 Miller-Dieker syndrome Diseases 0.000 description 1
- 208000001804 Monosomy 5p Diseases 0.000 description 1
- 208000016679 Monosomy X Diseases 0.000 description 1
- 208000010610 Mosaic trisomy 8 Diseases 0.000 description 1
- 201000010769 Prader-Willi syndrome Diseases 0.000 description 1
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 1
- 201000001388 Smith-Magenis syndrome Diseases 0.000 description 1
- 208000002715 Thymic aplasia Diseases 0.000 description 1
- 206010053871 Trisomy 8 Diseases 0.000 description 1
- 206010071547 Trisomy 9 Diseases 0.000 description 1
- 206010049644 Williams syndrome Diseases 0.000 description 1
- 201000001305 Williams-Beuren syndrome Diseases 0.000 description 1
- 208000006254 Wolf-Hirschhorn Syndrome Diseases 0.000 description 1
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- 238000002669 amniocentesis Methods 0.000 description 1
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- 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 1
- SUYVUBYJARFZHO-UHFFFAOYSA-N dATP Natural products C1=NC=2C(N)=NC=NC=2N1C1CC(O)C(COP(O)(=O)OP(O)(=O)OP(O)(O)=O)O1 SUYVUBYJARFZHO-UHFFFAOYSA-N 0.000 description 1
- RGWHQCVHVJXOKC-SHYZEUOFSA-J dCTP(4-) Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](COP([O-])(=O)OP([O-])(=O)OP([O-])([O-])=O)[C@@H](O)C1 RGWHQCVHVJXOKC-SHYZEUOFSA-J 0.000 description 1
- 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 1
- 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 1
- 230000007812 deficiency Effects 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 230000005669 field effect Effects 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
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- 230000007774 longterm Effects 0.000 description 1
- 238000004519 manufacturing process Methods 0.000 description 1
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- 238000012544 monitoring process Methods 0.000 description 1
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- 230000008775 paternal effect Effects 0.000 description 1
- 210000005259 peripheral blood Anatomy 0.000 description 1
- 239000011886 peripheral blood Substances 0.000 description 1
- 102000054765 polymorphisms of proteins Human genes 0.000 description 1
- 238000007781 pre-processing Methods 0.000 description 1
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- 108090000623 proteins and genes Proteins 0.000 description 1
- 238000012175 pyrosequencing Methods 0.000 description 1
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- 238000012216 screening Methods 0.000 description 1
- 238000000551 statistical hypothesis test Methods 0.000 description 1
- 230000008685 targeting Effects 0.000 description 1
- 238000012360 testing method Methods 0.000 description 1
- 206010044689 trisomy 22 Diseases 0.000 description 1
- 208000026485 trisomy X Diseases 0.000 description 1
- 208000034298 trisomy chromosome 8 Diseases 0.000 description 1
- 230000007306 turnover Effects 0.000 description 1
- 238000002604 ultrasonography Methods 0.000 description 1
- 201000000866 velocardiofacial syndrome Diseases 0.000 description 1
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
- 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
- C12Q1/6879—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for sex determination
-
- 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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- 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
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Organic Chemistry (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- General Engineering & Computer Science (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201261695182P | 2012-08-30 | 2012-08-30 | |
| US61/695,182 | 2012-08-30 | ||
| GB1215449.8 | 2012-08-30 | ||
| GBGB1215449.8A GB201215449D0 (en) | 2012-08-30 | 2012-08-30 | Method of detecting chromosonal abnormalities |
| PCT/GB2013/052261 WO2014033455A1 (en) | 2012-08-30 | 2013-08-29 | Method of detecting chromosomal abnormalities |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2883464A1 true CA2883464A1 (en) | 2014-03-06 |
Family
ID=47074981
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2883464A Abandoned CA2883464A1 (en) | 2012-08-30 | 2013-08-29 | Method of detecting chromosomal abnormalities |
Country Status (10)
| Country | Link |
|---|---|
| US (1) | US20150267255A1 (enExample) |
| EP (1) | EP2890813A1 (enExample) |
| JP (1) | JP2015526101A (enExample) |
| KR (1) | KR20150070111A (enExample) |
| CN (1) | CN104968800A (enExample) |
| CA (1) | CA2883464A1 (enExample) |
| GB (1) | GB201215449D0 (enExample) |
| HK (1) | HK1212391A1 (enExample) |
| IN (1) | IN2015MN00457A (enExample) |
| WO (1) | WO2014033455A1 (enExample) |
Families Citing this family (21)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2015181718A1 (en) * | 2014-05-26 | 2015-12-03 | Ebios Futura S.R.L. | Method of prenatal diagnosis |
| WO2016010401A1 (ko) * | 2014-07-18 | 2016-01-21 | 에스케이텔레콘 주식회사 | 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 |
| US20160026759A1 (en) * | 2014-07-22 | 2016-01-28 | Yourgene Bioscience | Detecting Chromosomal Aneuploidy |
| KR101638473B1 (ko) * | 2014-12-26 | 2016-07-12 | 연세대학교 산학협력단 | 차세대 염기서열 분석법을 기반으로 하는 결실 유전자군 검출 방법 |
| BE1022789B1 (nl) * | 2015-07-17 | 2016-09-06 | Multiplicom Nv | Werkwijze en systeem voor geslachtsinschatting van een foetus van een zwangere vrouw |
| KR101817785B1 (ko) | 2015-08-06 | 2018-01-11 | 이원다이애그노믹스(주) | 다양한 플랫폼에서 태아의 성별과 성염색체 이상을 구분할 수 있는 새로운 방법 |
| CA2995422A1 (en) * | 2015-08-12 | 2017-02-16 | The Chinese University Of Hong Kong | Single-molecule sequencing of plasma dna |
| KR101686146B1 (ko) * | 2015-12-04 | 2016-12-13 | 주식회사 녹십자지놈 | 핵산의 혼합물을 포함하는 샘플에서 복제수 변이를 결정하는 방법 |
| CN108475301A (zh) * | 2015-12-04 | 2018-08-31 | 绿十字基因组公司 | 用于确定包含核酸的混合物的样品中的拷贝数变异的方法 |
| GB201522665D0 (en) * | 2015-12-22 | 2016-02-03 | Premaitha Ltd | Detection of chromosome abnormalities |
| KR101817180B1 (ko) * | 2016-01-20 | 2018-01-10 | 이원다이애그노믹스(주) | 염색체 이상 판단 방법 |
| CN105926043B (zh) * | 2016-04-19 | 2018-08-28 | 苏州贝康医疗器械有限公司 | 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法 |
| KR101721480B1 (ko) | 2016-06-02 | 2017-03-30 | 주식회사 랩 지노믹스 | 염색체 이상 검사 방법 및 시스템 |
| EP3601591A1 (en) * | 2017-03-31 | 2020-02-05 | Premaitha Limited | Method of detecting a fetal chromosomal abnormality |
| CN109280702A (zh) * | 2017-07-21 | 2019-01-29 | 深圳华大基因研究院 | 确定个体染色体结构异常的方法和系统 |
| CN108268752B (zh) * | 2018-01-18 | 2019-02-01 | 东莞博奥木华基因科技有限公司 | 一种染色体异常检测装置 |
| CN108396058A (zh) * | 2018-01-19 | 2018-08-14 | 刘晓雯 | 检测染色体异常的产前诊断方法 |
| CN110033828B (zh) * | 2019-04-03 | 2021-06-18 | 北京各色科技有限公司 | 基于芯片检测dna数据的性别判断方法 |
| WO2021107676A1 (ko) * | 2019-11-29 | 2021-06-03 | 주식회사 녹십자지놈 | 인공지능 기반 염색체 이상 검출 방법 |
| KR20230052354A (ko) * | 2021-10-12 | 2023-04-20 | 현대자동차주식회사 | 차량힌지 구동장치 |
Family Cites Families (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US8620593B2 (en) * | 2009-11-06 | 2013-12-31 | The Chinese University Of Hong Kong | Size-based genomic analysis |
| AU2012236200B2 (en) * | 2011-03-30 | 2015-05-14 | Verinata Health, Inc. | Method for verifying bioassay samples |
| GB2485635B (en) * | 2011-07-26 | 2012-11-28 | Verinata Health Inc | Method for determining the presence or absence of different aneuploidies in a sample |
-
2012
- 2012-08-30 GB GBGB1215449.8A patent/GB201215449D0/en not_active Ceased
-
2013
- 2013-08-29 CA CA2883464A patent/CA2883464A1/en not_active Abandoned
- 2013-08-29 HK HK16100149.2A patent/HK1212391A1/xx unknown
- 2013-08-29 JP JP2015529121A patent/JP2015526101A/ja active Pending
- 2013-08-29 EP EP13759286.1A patent/EP2890813A1/en not_active Ceased
- 2013-08-29 WO PCT/GB2013/052261 patent/WO2014033455A1/en not_active Ceased
- 2013-08-29 CN CN201380056824.4A patent/CN104968800A/zh active Pending
- 2013-08-29 KR KR1020157007576A patent/KR20150070111A/ko not_active Withdrawn
- 2013-08-29 IN IN457MUN2015 patent/IN2015MN00457A/en unknown
- 2013-08-29 US US14/424,805 patent/US20150267255A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| CN104968800A (zh) | 2015-10-07 |
| WO2014033455A1 (en) | 2014-03-06 |
| IN2015MN00457A (enExample) | 2015-09-04 |
| US20150267255A1 (en) | 2015-09-24 |
| EP2890813A1 (en) | 2015-07-08 |
| GB201215449D0 (en) | 2012-10-17 |
| HK1212391A1 (en) | 2016-06-10 |
| JP2015526101A (ja) | 2015-09-10 |
| KR20150070111A (ko) | 2015-06-24 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FZDE | Discontinued |
Effective date: 20190829 |
|
| FZDE | Discontinued |
Effective date: 20190829 |