JP2014534507A5 - - Google Patents
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- JP2014534507A5 JP2014534507A5 JP2014534806A JP2014534806A JP2014534507A5 JP 2014534507 A5 JP2014534507 A5 JP 2014534507A5 JP 2014534806 A JP2014534806 A JP 2014534806A JP 2014534806 A JP2014534806 A JP 2014534806A JP 2014534507 A5 JP2014534507 A5 JP 2014534507A5
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- Prior art keywords
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- relationship
- trisomy
- 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.)
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- 210000000349 chromosome Anatomy 0.000 claims description 128
- 230000001605 fetal effect Effects 0.000 claims description 78
- 238000000034 method Methods 0.000 claims description 51
- 208000037280 Trisomy Diseases 0.000 claims description 48
- 238000012360 testing method Methods 0.000 claims description 40
- 239000012634 fragment Substances 0.000 claims description 28
- 210000003754 fetus Anatomy 0.000 claims description 17
- 238000005259 measurement Methods 0.000 claims description 13
- 208000036878 aneuploidy Diseases 0.000 claims description 11
- 150000007523 nucleic acids Chemical class 0.000 claims description 11
- 102000039446 nucleic acids Human genes 0.000 claims description 11
- 108020004707 nucleic acids Proteins 0.000 claims description 11
- 231100001075 aneuploidy Toxicity 0.000 claims description 10
- 230000002759 chromosomal effect Effects 0.000 claims description 10
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 claims description 10
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 claims description 10
- 230000035945 sensitivity Effects 0.000 claims description 10
- 238000012163 sequencing technique Methods 0.000 claims description 7
- 229940104302 cytosine Drugs 0.000 claims description 5
- 238000012417 linear regression Methods 0.000 claims description 5
- 238000013507 mapping Methods 0.000 claims description 5
- 239000002773 nucleotide Substances 0.000 claims description 5
- 125000003729 nucleotide group Chemical group 0.000 claims description 5
- 239000000523 sample Substances 0.000 description 38
- 230000008774 maternal effect Effects 0.000 description 17
- 238000012217 deletion Methods 0.000 description 15
- 230000037430 deletion Effects 0.000 description 15
- 238000009826 distribution Methods 0.000 description 15
- 230000006870 function Effects 0.000 description 11
- 201000010374 Down Syndrome Diseases 0.000 description 9
- 208000026487 Triploidy Diseases 0.000 description 9
- 206010044688 Trisomy 21 Diseases 0.000 description 9
- 230000001186 cumulative effect Effects 0.000 description 9
- 238000002790 cross-validation Methods 0.000 description 7
- 210000001766 X chromosome Anatomy 0.000 description 5
- 238000012937 correction Methods 0.000 description 5
- 230000009897 systematic effect Effects 0.000 description 5
- 238000012795 verification Methods 0.000 description 5
- 239000000654 additive Substances 0.000 description 4
- 230000000996 additive effect Effects 0.000 description 4
- 238000004088 simulation Methods 0.000 description 4
- 230000005856 abnormality Effects 0.000 description 3
- 238000004364 calculation method Methods 0.000 description 3
- 238000010606 normalization Methods 0.000 description 3
- 208000020584 Polyploidy Diseases 0.000 description 2
- 210000002593 Y chromosome Anatomy 0.000 description 2
- 230000002159 abnormal effect Effects 0.000 description 2
- 238000003556 assay Methods 0.000 description 2
- 238000005314 correlation function Methods 0.000 description 2
- 230000000875 corresponding effect Effects 0.000 description 2
- 239000013610 patient sample Substances 0.000 description 2
- 238000000692 Student's t-test Methods 0.000 description 1
- 208000034790 Twin pregnancy Diseases 0.000 description 1
- 238000004458 analytical method Methods 0.000 description 1
- 230000003322 aneuploid effect Effects 0.000 description 1
- 230000001174 ascending effect Effects 0.000 description 1
- 230000006399 behavior Effects 0.000 description 1
- 238000004422 calculation algorithm Methods 0.000 description 1
- 230000002596 correlated effect Effects 0.000 description 1
- 239000006185 dispersion Substances 0.000 description 1
- 238000003708 edge detection Methods 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 238000001914 filtration Methods 0.000 description 1
- 230000000873 masking effect Effects 0.000 description 1
- 238000000926 separation method Methods 0.000 description 1
- 239000007787 solid Substances 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 238000012353 t test Methods 0.000 description 1
Applications Claiming Priority (7)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161544251P | 2011-10-06 | 2011-10-06 | |
| US61/544,251 | 2011-10-06 | ||
| US201261663477P | 2012-06-22 | 2012-06-22 | |
| US61/663,477 | 2012-06-22 | ||
| US201261709899P | 2012-10-04 | 2012-10-04 | |
| US61/709,899 | 2012-10-04 | ||
| PCT/US2012/059123 WO2013052913A2 (en) | 2011-10-06 | 2012-10-05 | Methods and processes for non-invasive assessment of genetic variations |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016216922A Division JP6227095B2 (ja) | 2011-10-06 | 2016-11-07 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2014534507A JP2014534507A (ja) | 2014-12-18 |
| JP2014534507A5 true JP2014534507A5 (https=) | 2015-10-29 |
| JP6073902B2 JP6073902B2 (ja) | 2017-02-01 |
Family
ID=47073532
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014534806A Active JP6073902B2 (ja) | 2011-10-06 | 2012-10-05 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
| JP2016216922A Active JP6227095B2 (ja) | 2011-10-06 | 2016-11-07 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
| JP2017045068A Withdrawn JP2017099419A (ja) | 2011-10-06 | 2017-03-09 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016216922A Active JP6227095B2 (ja) | 2011-10-06 | 2016-11-07 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
| JP2017045068A Withdrawn JP2017099419A (ja) | 2011-10-06 | 2017-03-09 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US20230112134A1 (https=) |
| EP (2) | EP3922731A3 (https=) |
| JP (3) | JP6073902B2 (https=) |
| AU (1) | AU2012318371B2 (https=) |
| CA (1) | CA2850781C (https=) |
| DK (1) | DK2764459T3 (https=) |
| ES (1) | ES2886508T3 (https=) |
| WO (1) | WO2013052913A2 (https=) |
Families Citing this family (82)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP3263177B2 (ja) | 1993-04-15 | 2002-03-04 | 東レ・ダウコーニング・シリコーン株式会社 | エポキシ基含有シリコーンレジンおよびその製造方法 |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| EP3088532B1 (en) | 2009-12-22 | 2019-10-30 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| EP2860265B1 (en) | 2011-02-24 | 2016-10-26 | The Chinese University of Hong Kong | Determining fetal DNA percentage for twins |
| US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
| CA2850785C (en) | 2011-10-06 | 2022-12-13 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2013109981A1 (en) | 2012-01-20 | 2013-07-25 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| HK1206055A1 (en) | 2012-03-02 | 2015-12-31 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| DK3663409T3 (da) * | 2012-05-21 | 2021-12-13 | Sequenom Inc | Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US10497461B2 (en) * | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20140093873A1 (en) | 2012-07-13 | 2014-04-03 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| CA2887094C (en) * | 2012-10-04 | 2021-09-07 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10844424B2 (en) | 2013-02-20 | 2020-11-24 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
| EP2959015B1 (en) | 2013-02-20 | 2020-11-04 | Bionano Genomics, Inc. | Characterization of molecules in nanofluidics |
| HK1216655A1 (zh) | 2013-03-13 | 2016-11-25 | Sequenom, Inc. | 用於dna甲基化分析的引物 |
| PL2981921T3 (pl) | 2013-04-03 | 2023-05-08 | Sequenom, Inc. | Metody i procesy nieinwazyjnej oceny zmienności genetycznych |
| EP4604127A3 (en) * | 2013-05-24 | 2025-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2014194092A1 (en) * | 2013-05-30 | 2014-12-04 | Memorial Sloan-Kettering Cancer Center | System and method for automated prediction of vulnerabilities in biological samples |
| HUE042654T2 (hu) * | 2013-06-21 | 2019-07-29 | Sequenom Inc | Eljárás genetikai variációk nem-invazív megállapítására |
| CN104450872A (zh) * | 2013-09-25 | 2015-03-25 | 上海市肿瘤研究所 | 一种高通量多样本多靶点单碱基分辨率的甲基化水平检测方法 |
| IL304949B2 (en) * | 2013-10-04 | 2025-09-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| EP3495496B1 (en) | 2013-10-07 | 2020-11-25 | Sequenom, Inc. | Methods and processes for non-invasive assessment of chromosome alterations |
| US10851414B2 (en) * | 2013-10-18 | 2020-12-01 | Good Start Genetics, Inc. | Methods for determining carrier status |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| CN103540672B (zh) * | 2013-10-29 | 2015-04-08 | 中国科学技术大学 | 一种亲和核酸分子的快速鉴定和分离方法 |
| KR101516976B1 (ko) * | 2013-10-30 | 2015-05-04 | 에스케이텔레콤 주식회사 | 표적 염기 서열 해독에서의 바이어스 제거 방법 |
| CN106164295B (zh) | 2014-02-25 | 2020-08-11 | 生物纳米基因公司 | 减小基因组覆盖测量中的偏差 |
| US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20150347676A1 (en) * | 2014-05-30 | 2015-12-03 | Sequenom, Inc. | Chromosome representation determinations |
| CA2950596C (en) | 2014-05-30 | 2023-10-31 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| WO2016019042A1 (en) | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20160048608A1 (en) | 2014-08-15 | 2016-02-18 | Good Start Genetics, Inc. | Systems and methods for genetic analysis |
| JP2016042836A (ja) * | 2014-08-25 | 2016-04-04 | 富士フイルム株式会社 | 検査通知出力装置、検査通知出力方法、検査通知出力プログラム、及び遺伝子染色体検査システム |
| EP3502273B1 (en) | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| US10006910B2 (en) | 2014-12-18 | 2018-06-26 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same |
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| US10020300B2 (en) | 2014-12-18 | 2018-07-10 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
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| EP3256605B1 (en) * | 2015-02-10 | 2022-02-09 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| IL305462A (en) | 2015-07-23 | 2023-10-01 | Univ Hong Kong Chinese | DNA fragmentation pattern analysis suitable clean |
| RU2613021C1 (ru) * | 2015-11-20 | 2017-03-14 | Общество С Ограниченной Ответственностью "Стриж Телематика" | Способ кодирования и декодирования сообщений |
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| EP3464626B1 (en) | 2016-05-27 | 2022-04-06 | Sequenom, Inc. | Methods for detecting genetic variations |
| KR102610098B1 (ko) * | 2016-07-06 | 2023-12-04 | 가던트 헬쓰, 인크. | 무세포 핵산의 프래그멘톰 프로파일링을 위한 방법 |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| CA3030894A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Methods for non-invasive assessment of genomic instability |
| MX2019003344A (es) * | 2016-09-22 | 2019-09-04 | Illumina Inc | Deteccion de variacion de numero de copias somaticas. |
| US11352662B2 (en) | 2017-01-20 | 2022-06-07 | Sequenom, Inc. | Sequence adapter manufacture and use |
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| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| IL316163A (en) | 2017-07-26 | 2024-12-01 | Univ Hong Kong Chinese | Enhancement of cancer screening using cell-free viral nucleic acids |
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| US20210301342A1 (en) | 2018-09-07 | 2021-09-30 | Sequenom, Inc. | Methods, and systems to detect transplant rejection |
| EP3927845A1 (en) | 2019-02-19 | 2021-12-29 | Sequenom, Inc. | Compositions, methods, and systems to detect hematopoietic stem cell transplantation status |
| CA3147613A1 (en) * | 2019-08-19 | 2021-02-25 | Chang-Seok Ki | Method for detecting chromosomal abnormality by using information about distance between nucleic acid fragments |
| KR102452413B1 (ko) * | 2019-08-19 | 2022-10-11 | 주식회사 지씨지놈 | 핵산 단편간 거리 정보를 이용한 염색체 이상 검출 방법 |
| EP4035161A1 (en) | 2019-09-23 | 2022-08-03 | Grail, LLC | Systems and methods for diagnosing a disease condition using on-target and off-target sequencing data |
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| US20230068937A1 (en) * | 2020-01-16 | 2023-03-02 | Congenica Ltd. | Application of pathogenicity model and training thereof |
| CA3173571A1 (en) | 2020-02-28 | 2021-09-02 | Laboratory Corporation Of America Holdings | Compositions, methods, and systems for paternity determination |
| WO2024186778A1 (en) | 2023-03-03 | 2024-09-12 | Laboratory Corporation Of America Holdings | Methods and systems for positive cfdna screening on genetic variations using mosaicism ratio |
| WO2024238593A1 (en) | 2023-05-15 | 2024-11-21 | Laboratory Corporation Of America Holdings | Machine-learning approaches to pan-cancer screening in whole genome sequencing |
| CN119986662B (zh) * | 2025-02-28 | 2025-11-04 | 长沙气象雷达标校中心 | 一种天气雷达基数据品质分析和超标预警系统 |
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| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6927028B2 (en) | 2001-08-31 | 2005-08-09 | Chinese University Of Hong Kong | Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA |
| CN1703521B (zh) | 2002-09-06 | 2011-11-16 | 波士顿大学信托人 | 基因表达的定量 |
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| EP1641809B2 (en) | 2003-07-05 | 2018-10-03 | The Johns Hopkins University | Method and compositions for detection and enumeration of genetic variations |
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| EP3260556B1 (en) | 2006-05-31 | 2019-07-31 | Sequenom, Inc. | Methods for the extraction of nucleic acid from a sample |
| AU2007260750A1 (en) | 2006-06-16 | 2007-12-21 | Sequenom, Inc. | Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample |
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| LT2557517T (lt) | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| WO2009032779A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
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| HUE031848T2 (en) * | 2008-09-20 | 2017-08-28 | Univ Leland Stanford Junior | Non-invasive diagnosis of fetal aneuploidy by sequencing |
| EP3514244B1 (en) | 2009-04-03 | 2021-07-07 | Sequenom, Inc. | Nucleic acid preparation methods |
| US8574842B2 (en) * | 2009-12-22 | 2013-11-05 | The Board Of Trustees Of The Leland Stanford Junior University | Direct molecular diagnosis of fetal aneuploidy |
| EP2526415B1 (en) * | 2010-01-19 | 2017-05-03 | Verinata Health, Inc | Partition defined detection methods |
| ES2534758T3 (es) | 2010-01-19 | 2015-04-28 | Verinata Health, Inc. | Métodos de secuenciación en diagnósticos prenatales |
| WO2011143659A2 (en) | 2010-05-14 | 2011-11-17 | Fluidigm Corporation | Nucleic acid isolation methods |
-
2012
- 2012-10-05 ES ES12777999T patent/ES2886508T3/es active Active
- 2012-10-05 CA CA2850781A patent/CA2850781C/en active Active
- 2012-10-05 EP EP21182355.4A patent/EP3922731A3/en active Pending
- 2012-10-05 AU AU2012318371A patent/AU2012318371B2/en active Active
- 2012-10-05 JP JP2014534806A patent/JP6073902B2/ja active Active
- 2012-10-05 WO PCT/US2012/059123 patent/WO2013052913A2/en not_active Ceased
- 2012-10-05 DK DK12777999.9T patent/DK2764459T3/da active
- 2012-10-05 EP EP12777999.9A patent/EP2764459B1/en active Active
-
2016
- 2016-11-07 JP JP2016216922A patent/JP6227095B2/ja active Active
-
2017
- 2017-03-09 JP JP2017045068A patent/JP2017099419A/ja not_active Withdrawn
-
2022
- 2022-12-13 US US18/080,620 patent/US20230112134A1/en active Pending
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