JP2014520509A5 - - Google Patents
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- JP2014520509A5 JP2014520509A5 JP2014517369A JP2014517369A JP2014520509A5 JP 2014520509 A5 JP2014520509 A5 JP 2014520509A5 JP 2014517369 A JP2014517369 A JP 2014517369A JP 2014517369 A JP2014517369 A JP 2014517369A JP 2014520509 A5 JP2014520509 A5 JP 2014520509A5
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Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/CN2011/001070 WO2013000100A1 (en) | 2011-06-29 | 2011-06-29 | Noninvasive detection of fetal genetic abnormality |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2014520509A JP2014520509A (ja) | 2014-08-25 |
| JP2014520509A5 true JP2014520509A5 (https=) | 2014-10-02 |
| JP5659319B2 JP5659319B2 (ja) | 2015-01-28 |
Family
ID=47392194
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014517369A Active JP5659319B2 (ja) | 2011-06-29 | 2011-06-29 | 胎児の遺伝的異常の非侵襲的検出 |
Country Status (17)
| Country | Link |
|---|---|
| US (1) | US9547748B2 (https=) |
| EP (1) | EP2561103B1 (https=) |
| JP (1) | JP5659319B2 (https=) |
| KR (1) | KR101489568B1 (https=) |
| CN (1) | CN103403183B (https=) |
| AU (1) | AU2012261664B2 (https=) |
| BR (1) | BR112012033760B1 (https=) |
| CA (2) | CA2948939C (https=) |
| DK (1) | DK2561103T3 (https=) |
| ES (1) | ES2512448T3 (https=) |
| MY (1) | MY172864A (https=) |
| PL (1) | PL2561103T3 (https=) |
| RU (1) | RU2589681C2 (https=) |
| SG (1) | SG191757A1 (https=) |
| SI (1) | SI2561103T1 (https=) |
| WO (1) | WO2013000100A1 (https=) |
| ZA (1) | ZA201209583B (https=) |
Families Citing this family (65)
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| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
| DK2561103T3 (da) | 2011-06-29 | 2014-10-20 | Bgi Diagnosis Co Ltd | Ikke-invasiv påvisning af føtal genetisk anomali |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
| 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 |
| 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 |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US10497461B2 (en) | 2012-06-22 | 2019-12-03 | 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 |
| EP2959015B1 (en) * | 2013-02-20 | 2020-11-04 | Bionano Genomics, Inc. | Characterization of molecules in nanofluidics |
| US10844424B2 (en) | 2013-02-20 | 2020-11-24 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
| WO2014133369A1 (ko) * | 2013-02-28 | 2014-09-04 | 주식회사 테라젠이텍스 | 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치 |
| 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 |
| CN112037860B (zh) * | 2013-06-13 | 2024-02-23 | 豪夫迈·罗氏有限公司 | 用于非入侵性性染色体非整倍性确定的统计分析 |
| HUE042654T2 (hu) * | 2013-06-21 | 2019-07-29 | Sequenom Inc | Eljárás genetikai variációk nem-invazív megállapítására |
| 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 |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| CN103525939B (zh) * | 2013-10-28 | 2015-12-02 | 博奥生物集团有限公司 | 无创检测胎儿染色体非整倍体的方法和系统 |
| 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 |
| CA2950596C (en) * | 2014-05-30 | 2023-10-31 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| CN104156631B (zh) * | 2014-07-14 | 2017-07-18 | 天津华大基因科技有限公司 | 染色体三倍体检验方法 |
| WO2016010401A1 (ko) * | 2014-07-18 | 2016-01-21 | 에스케이텔레콘 주식회사 | 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 |
| WO2016019042A1 (en) | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN106795551B (zh) * | 2014-09-26 | 2020-11-20 | 深圳华大基因股份有限公司 | 单细胞染色体的cnv分析方法和检测装置 |
| EP3502273B1 (en) | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| CN104789466B (zh) * | 2015-05-06 | 2018-03-13 | 安诺优达基因科技(北京)有限公司 | 检测染色体非整倍性的试剂盒和装置 |
| 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 |
| KR101678962B1 (ko) | 2015-08-21 | 2016-12-06 | 이승재 | 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법 |
| WO2017051996A1 (ko) * | 2015-09-24 | 2017-03-30 | 에스케이텔레콤 주식회사 | 비침습적 태아 염색체 이수성 판별 방법 |
| CN105354443A (zh) * | 2015-12-14 | 2016-02-24 | 孔祥军 | 无创产前基因检测分析软件 |
| CN105483229B (zh) * | 2015-12-21 | 2018-10-16 | 广东腾飞基因科技股份有限公司 | 一种检测胎儿染色体非整倍体的方法及系统 |
| KR101817180B1 (ko) * | 2016-01-20 | 2018-01-10 | 이원다이애그노믹스(주) | 염색체 이상 판단 방법 |
| US10095831B2 (en) * | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| CA3014292A1 (en) * | 2016-02-12 | 2017-08-17 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| CN106096330B (zh) * | 2016-05-31 | 2019-02-01 | 北京百迈客医学检验所有限公司 | 一种无创产前生物信息检测分析方法 |
| JP6785068B2 (ja) * | 2016-05-31 | 2020-11-18 | 富士フイルム株式会社 | 生物情報解析方法 |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| US11694768B2 (en) | 2017-01-24 | 2023-07-04 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| WO2018137141A1 (zh) | 2017-01-24 | 2018-08-02 | 深圳华大基因研究院 | 基于外泌体dna进行无创产前诊断的方法及其应用 |
| JP7370862B2 (ja) | 2017-03-17 | 2023-10-30 | セクエノム， インコーポレイテッド | 遺伝子モザイク症のための方法およびプロセス |
| CN110914456A (zh) * | 2017-03-31 | 2020-03-24 | 普莱梅沙有限公司 | 检测胎儿染色体异常的方法 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| ES2970286T3 (es) | 2018-01-05 | 2024-05-27 | Billiontoone Inc | Plantillas de control de calidad para garantizar la validez de ensayos basados en secuenciación |
| WO2019195975A1 (zh) * | 2018-04-09 | 2019-10-17 | 深圳华大生命科学研究院 | 基因文库的构建方法及其应用 |
| CN111918965A (zh) * | 2018-04-28 | 2020-11-10 | 深圳华大生命科学研究院 | 一种胎儿游离核酸的富集方法及其应用 |
| WO2019227420A1 (zh) * | 2018-05-31 | 2019-12-05 | 深圳华大临床检验中心 | 确定男性待测样本是否存在三倍体的方法、系统和计算机可读介质 |
| CN109192243B (zh) * | 2018-08-13 | 2021-03-12 | 成都凡迪医学检验所有限公司 | 染色体比例的修正方法、装置、介质 |
| CN112955960B (zh) * | 2018-09-07 | 2024-08-16 | Illumina公司 | 确定从怀孕母体分离的循环胎儿细胞来自当前妊娠或过往妊娠的方法 |
| KR20200106643A (ko) | 2019-03-05 | 2020-09-15 | (주)인실리코젠 | 바코드 서열 정보 기반 고민감도 유전변이 탐지 및 레포팅 시스템 |
| WO2020226528A1 (ru) * | 2019-05-08 | 2020-11-12 | Общество с ограниченной ответственностью "ГЕНОТЕК ИТ" | Способ определения кариотипа плода беременной женщины |
| CN110211654A (zh) * | 2019-05-30 | 2019-09-06 | 湖南自兴智慧医疗科技有限公司 | 一种自动隐藏性别信息的核型检测系统及方法 |
| CN111627498B (zh) * | 2020-05-21 | 2022-10-04 | 北京吉因加医学检验实验室有限公司 | 一种测序数据gc偏向性校正的方法及其装置 |
| RU2752783C1 (ru) * | 2020-12-18 | 2021-08-03 | Федеральное государственное бюджетное учреждение "Ивановский научно-исследовательский институт материнства и детства имени В.Н. Городкова" Министерства здравоохранения Российской Федерации | Способ прогнозирования анеуплоидии эмбрионов в программе экстракорпорального оплодотворения у женщин с эндометриоз-ассоциированным бесплодием |
| JP2024534899A (ja) * | 2021-09-03 | 2024-09-26 | アンスティチュ ナショナル ドゥ ラ サンテ エ ドゥ ラ ルシェルシュ メディカル | 非侵襲性出生前検査のための方法及びデバイス |
| JP2025509878A (ja) | 2022-03-21 | 2025-04-11 | ビリオントゥーワン，インコーポレイテッド | 処置モニタリングのためのメチル化セルフリーｄｎａの分子計数 |
| WO2025208288A1 (zh) * | 2024-04-01 | 2025-10-09 | 深圳华大生命科学研究院 | 基因预测方法、装置、计算机设备及计算机可读存储介质 |
| CN119936386B (zh) * | 2025-01-21 | 2025-12-16 | 北京航空航天大学杭州创新研究院 | 一种单分子免疫检测原料及其检测方法 |
Family Cites Families (30)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10021A (en) * | 1853-09-13 | Screw-eastemtito- for boots and shoes | ||
| US20010051341A1 (en) | 1997-03-04 | 2001-12-13 | Isis Innovation Limited | Non-invasive prenatal diagnosis |
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| USRE39920E1 (en) | 1997-05-30 | 2007-11-13 | Xenomics, Inc. | Methods for detection of nucleic acid sequences in urine |
| AU7703998A (en) | 1997-05-30 | 1998-12-30 | Lxr Biotechnology Inc. | Methods for detection of nucleic acid sequences in urine |
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| WO2005007869A2 (en) | 2003-07-10 | 2005-01-27 | Third Wave Technologies, Inc. | Assays for the direct measurement of gene dosage |
| DE60328193D1 (de) | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
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| TR201910868T4 (tr) | 2006-02-02 | 2019-08-21 | Univ Leland Stanford Junior | Dijital analizle invazif olmayan fetal genetik tarama. |
| US20100184043A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
| EP2351858B1 (en) | 2006-02-28 | 2014-12-31 | University of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| US20100184044A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
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| US20080090239A1 (en) | 2006-06-14 | 2008-04-17 | Daniel Shoemaker | Rare cell analysis using sample splitting and dna tags |
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| EP2589668A1 (en) | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| WO2007147079A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Rare cell analysis using sample splitting and dna tags |
| WO2009035447A1 (en) | 2006-06-14 | 2009-03-19 | Living Microsystems, Inc. | Diagnosis of fetal abnormalities by comparative genomic hybridization analysis |
| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
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| ES2391212T3 (es) | 2006-12-07 | 2012-11-22 | Novartis Ag | Cribado genético prenatal no-invasivo |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| LT2557517T (lt) | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| HUE031848T2 (en) * | 2008-09-20 | 2017-08-28 | Univ Leland Stanford Junior | Non-invasive diagnosis of fetal aneuploidy by sequencing |
| DK2561103T3 (da) | 2011-06-29 | 2014-10-20 | Bgi Diagnosis Co Ltd | Ikke-invasiv påvisning af føtal genetisk anomali |
-
2011
- 2011-06-29 DK DK11863253.8T patent/DK2561103T3/da active
- 2011-06-29 WO PCT/CN2011/001070 patent/WO2013000100A1/en not_active Ceased
- 2011-06-29 CA CA2948939A patent/CA2948939C/en active Active
- 2011-06-29 KR KR1020127034453A patent/KR101489568B1/ko active Active
- 2011-06-29 CN CN201180067286.XA patent/CN103403183B/zh active Active
- 2011-06-29 PL PL11863253T patent/PL2561103T3/pl unknown
- 2011-06-29 BR BR112012033760-2A patent/BR112012033760B1/pt active IP Right Grant
- 2011-06-29 JP JP2014517369A patent/JP5659319B2/ja active Active
- 2011-06-29 US US13/641,080 patent/US9547748B2/en active Active
- 2011-06-29 MY MYPI2012005470A patent/MY172864A/en unknown
- 2011-06-29 CA CA2791118A patent/CA2791118C/en active Active
- 2011-06-29 SG SG2013049317A patent/SG191757A1/en unknown
- 2011-06-29 RU RU2012158107/15A patent/RU2589681C2/ru active
- 2011-06-29 AU AU2012261664A patent/AU2012261664B2/en active Active
- 2011-06-29 EP EP11863253.8A patent/EP2561103B1/en active Active
- 2011-06-29 SI SI201130281T patent/SI2561103T1/sl unknown
- 2011-06-29 ES ES11863253.8T patent/ES2512448T3/es active Active
-
2012
- 2012-12-18 ZA ZA2012/09583A patent/ZA201209583B/en unknown
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