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 (enExample) | 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 (enExample) |
| EP (1) | EP2561103B1 (enExample) |
| JP (1) | JP5659319B2 (enExample) |
| KR (1) | KR101489568B1 (enExample) |
| CN (1) | CN103403183B (enExample) |
| AU (1) | AU2012261664B2 (enExample) |
| BR (1) | BR112012033760B1 (enExample) |
| CA (2) | CA2948939C (enExample) |
| DK (1) | DK2561103T3 (enExample) |
| ES (1) | ES2512448T3 (enExample) |
| MY (1) | MY172864A (enExample) |
| PL (1) | PL2561103T3 (enExample) |
| RU (1) | RU2589681C2 (enExample) |
| SG (1) | SG191757A1 (enExample) |
| SI (1) | SI2561103T1 (enExample) |
| WO (1) | WO2013000100A1 (enExample) |
| ZA (1) | ZA201209583B (enExample) |
Families Citing this family (65)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| US9547748B2 (en) | 2011-06-29 | 2017-01-17 | Bgi Health Service Co., Ltd. | Method for determining fetal chromosomal abnormality |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | 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 |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | 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 |
| US20140242588A1 (en) | 2011-10-06 | 2014-08-28 | Sequenom, Inc | Methods and processes for non-invasive assessment of genetic variations |
| EP2805280B1 (en) | 2012-01-20 | 2022-10-05 | 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 |
| WO2014130589A1 (en) * | 2013-02-20 | 2014-08-28 | 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 |
| EP4187543A1 (en) * | 2013-04-03 | 2023-05-31 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10699800B2 (en) | 2013-05-24 | 2020-06-30 | 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 |
| KR102299305B1 (ko) | 2013-06-21 | 2021-09-06 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| DK3053071T3 (da) | 2013-10-04 | 2024-01-22 | Sequenom Inc | Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer |
| EP3495496B1 (en) | 2013-10-07 | 2020-11-25 | Sequenom, Inc. | Methods and processes for non-invasive assessment of chromosome alterations |
| JP6534191B2 (ja) * | 2013-10-21 | 2019-06-26 | ベリナタ ヘルス インコーポレイテッド | コピー数変動を決定することにおける検出の感度を向上させるための方法 |
| 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 |
| JP6659672B2 (ja) | 2014-05-30 | 2020-03-04 | ベリナタ ヘルス インコーポレイテッド | 胎児染色体部分異数性およびコピー数変動の検出 |
| 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 |
| EP3175000B1 (en) | 2014-07-30 | 2020-07-29 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2016045106A1 (zh) * | 2014-09-26 | 2016-03-31 | 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 |
| AU2015360298B2 (en) | 2014-12-12 | 2018-06-07 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| 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 |
| EP3414691A1 (en) * | 2016-02-12 | 2018-12-19 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| 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 |
| 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 |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| EP3575399B1 (en) | 2017-01-24 | 2024-10-09 | BGI Shenzhen | Exosomal dna-based method for performing non-invasive prenatal diagnosis and application thereof |
| WO2018140521A1 (en) | 2017-01-24 | 2018-08-02 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| PT3596233T (pt) | 2017-03-17 | 2022-08-22 | Sequenom Inc | Métodos e processos para avaliação de mosaicismo genético |
| 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 |
| SG11202006110UA (en) | 2018-01-05 | 2020-07-29 | Billiontoone Inc | Quality control templates for ensuring validity of sequencing-based assays |
| 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 |
| WO2020051542A2 (en) * | 2018-09-07 | 2020-03-12 | Illumina, Inc. | A method to determine if a circulating fetal cell isolated from a pregnant mother is from either the current or a historical pregnancy |
| 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 |
| US20240355415A1 (en) * | 2021-09-03 | 2024-10-24 | Institut National De La Sante Et De La Recherche Medicale | Methods and devices for non-invasive prenatal testing |
| AU2023240345A1 (en) | 2022-03-21 | 2024-10-10 | Billion Toone, Inc. | Molecule counting of methylated cell-free dna for treatment monitoring |
| 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 | ||
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US20010051341A1 (en) | 1997-03-04 | 2001-12-13 | Isis Innovation Limited | Non-invasive prenatal diagnosis |
| US6492144B1 (en) | 1997-05-30 | 2002-12-10 | Diagen Corporation | Methods for detection of nucleic acid sequences in urine |
| USRE39920E1 (en) | 1997-05-30 | 2007-11-13 | Xenomics, Inc. | Methods for detection of nucleic acid sequences in urine |
| DK0920539T3 (da) | 1997-05-30 | 2006-07-24 | Xenomics | Fremgangsmåder til detektion af nukleinsyresekvenser i urin |
| US20020119478A1 (en) | 1997-05-30 | 2002-08-29 | Diagen Corporation | Methods for detection of nucleic acid sequences in urine |
| 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 |
| US20100216153A1 (en) * | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| US20060046258A1 (en) | 2004-02-27 | 2006-03-02 | Lapidus Stanley N | Applications of single molecule sequencing |
| US20100216151A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| HUE030215T2 (en) | 2006-02-02 | 2017-04-28 | Univ Leland Stanford Junior | Non-invasive fetal genetic screening by digital analysis |
| US20100184044A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
| US7799531B2 (en) | 2006-02-28 | 2010-09-21 | University Of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| US20100184043A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
| US20080038733A1 (en) | 2006-03-28 | 2008-02-14 | Baylor College Of Medicine | Screening for down syndrome |
| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
| EP2589668A1 (en) | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
| US20080124721A1 (en) | 2006-06-14 | 2008-05-29 | Martin Fuchs | Analysis of rare cell-enriched samples |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| EP2029779A4 (en) | 2006-06-14 | 2010-01-20 | Living Microsystems Inc | HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS |
| EP3424598B1 (en) | 2006-06-14 | 2022-06-08 | Verinata Health, Inc. | Rare cell analysis using sample splitting and dna tags |
| US20080026390A1 (en) | 2006-06-14 | 2008-01-31 | Roland Stoughton | Diagnosis of Fetal Abnormalities by Comparative Genomic Hybridization Analysis |
| WO2008014516A2 (en) | 2006-07-28 | 2008-01-31 | Living Microsystems, Inc. | Selection of cells using biomarkers |
| EP2140027B1 (en) | 2006-12-07 | 2012-07-18 | Novartis AG | Non-invasive prenatal genetic screen |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| HUE061020T2 (hu) | 2007-07-23 | 2023-05-28 | Univ Hong Kong Chinese | Nukleinsav-szekvencia kiegyensúlyozatlanságának meghatározására |
| ES2620012T3 (es) | 2008-09-20 | 2017-06-27 | The Board Of Trustees Of The Leland Stanford Junior University | Diagnóstico no invasivo de la aneuploidia fetal por secuenciación |
| US9547748B2 (en) | 2011-06-29 | 2017-01-17 | Bgi Health Service Co., Ltd. | Method for determining fetal chromosomal abnormality |
-
2011
- 2011-06-29 US US13/641,080 patent/US9547748B2/en active Active
- 2011-06-29 DK DK11863253.8T patent/DK2561103T3/da active
- 2011-06-29 JP JP2014517369A patent/JP5659319B2/ja active Active
- 2011-06-29 CA CA2948939A patent/CA2948939C/en active Active
- 2011-06-29 EP EP11863253.8A patent/EP2561103B1/en active Active
- 2011-06-29 CA CA2791118A patent/CA2791118C/en active Active
- 2011-06-29 WO PCT/CN2011/001070 patent/WO2013000100A1/en not_active Ceased
- 2011-06-29 SG SG2013049317A patent/SG191757A1/en unknown
- 2011-06-29 MY MYPI2012005470A patent/MY172864A/en unknown
- 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 KR KR1020127034453A patent/KR101489568B1/ko active Active
- 2011-06-29 AU AU2012261664A patent/AU2012261664B2/en active Active
- 2011-06-29 CN CN201180067286.XA patent/CN103403183B/zh active Active
- 2011-06-29 ES ES11863253.8T patent/ES2512448T3/es active Active
- 2011-06-29 RU RU2012158107/15A patent/RU2589681C2/ru active
- 2011-06-29 SI SI201130281T patent/SI2561103T1/sl unknown
-
2012
- 2012-12-18 ZA ZA2012/09583A patent/ZA201209583B/en unknown
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