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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- 210000000349 chromosome Anatomy 0.000 claims 22
- 238000000034 method Methods 0.000 claims 20
- 239000012634 fragment Substances 0.000 claims 15
- 210000003754 fetus Anatomy 0.000 claims 11
- 208000036878 aneuploidy Diseases 0.000 claims 9
- 231100001075 aneuploidy Toxicity 0.000 claims 8
- 210000001766 X chromosome Anatomy 0.000 claims 7
- 210000002593 Y chromosome Anatomy 0.000 claims 7
- 230000002759 chromosomal effect Effects 0.000 claims 7
- 230000001605 fetal effect Effects 0.000 claims 6
- 102000040430 polynucleotide Human genes 0.000 claims 4
- 108091033319 polynucleotide Proteins 0.000 claims 4
- 239000002157 polynucleotide Substances 0.000 claims 4
- 208000037280 Trisomy Diseases 0.000 claims 2
- 230000005856 abnormality Effects 0.000 claims 2
- 230000002068 genetic effect Effects 0.000 claims 2
- 238000010606 normalization Methods 0.000 claims 2
- 210000005259 peripheral blood Anatomy 0.000 claims 2
- 239000011886 peripheral blood Substances 0.000 claims 2
- 201000010374 Down Syndrome Diseases 0.000 claims 1
- 201000006360 Edwards syndrome Diseases 0.000 claims 1
- 201000009928 Patau syndrome Diseases 0.000 claims 1
- 206010044686 Trisomy 13 Diseases 0.000 claims 1
- 208000006284 Trisomy 13 Syndrome Diseases 0.000 claims 1
- 208000007159 Trisomy 18 Syndrome Diseases 0.000 claims 1
- 206010044688 Trisomy 21 Diseases 0.000 claims 1
- 230000003322 aneuploid effect Effects 0.000 claims 1
- 230000008774 maternal effect Effects 0.000 claims 1
- 210000003765 sex chromosome Anatomy 0.000 claims 1
- 238000000551 statistical hypothesis test Methods 0.000 claims 1
- 206010053884 trisomy 18 Diseases 0.000 claims 1
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 |
| CN103403183B (zh) | 2011-06-29 | 2014-10-15 | 深圳华大基因医学有限公司 | 胎儿遗传异常的无创性检测 |
| 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 |
| 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 |
| US20140242588A1 (en) | 2011-10-06 | 2014-08-28 | Sequenom, Inc | Methods and processes for non-invasive assessment of genetic variations |
| CA2861856C (en) | 2012-01-20 | 2020-06-02 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| 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 |
| US10844424B2 (en) | 2013-02-20 | 2020-11-24 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
| JP6542676B2 (ja) * | 2013-02-20 | 2019-07-10 | バイオナノ ジェノミクス、 インコーポレイテッド | ナノフルイディクスにおける分子の特性解析 |
| 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 |
| IL300163B2 (en) * | 2013-05-24 | 2024-06-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| CA2898747C (en) * | 2013-06-13 | 2021-09-21 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| JP6473744B2 (ja) * | 2013-06-21 | 2019-02-20 | セクエノム， インコーポレイテッド | 遺伝子の変動の非侵襲的評価のための方法および処理 |
| DK3053071T3 (da) * | 2013-10-04 | 2024-01-22 | Sequenom Inc | Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer |
| CN111863131A (zh) | 2013-10-07 | 2020-10-30 | 塞昆纳姆股份有限公司 | 用于非侵入性评估染色体改变的方法和过程 |
| WO2015061359A1 (en) * | 2013-10-21 | 2015-04-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| 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 |
| US20160034640A1 (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 |
| EP3230469B1 (en) | 2014-12-12 | 2019-04-03 | 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 |
| CA3014292A1 (en) * | 2016-02-12 | 2017-08-17 | 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 |
| CA3030890A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Genetic copy number alteration classifications |
| JP7237003B2 (ja) | 2017-01-24 | 2023-03-10 | セクエノム， インコーポレイテッド | 遺伝子片の評価のための方法およびプロセス |
| EP3575399B1 (en) | 2017-01-24 | 2024-10-09 | BGI Shenzhen | Exosomal dna-based method for performing non-invasive prenatal diagnosis and application thereof |
| EP3596233B1 (en) | 2017-03-17 | 2022-05-18 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| JP2020512000A (ja) * | 2017-03-31 | 2020-04-23 | プレマイサ リミテッド | 胎児の染色体異常を検出する方法 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| EP4650456A3 (en) | 2018-01-05 | 2026-01-21 | BillionToOne, Inc. | Quality control templates for ensuring validity of sequencing-based assays |
| CN111868254A (zh) * | 2018-04-09 | 2020-10-30 | 深圳华大生命科学研究院 | 基因文库的构建方法及其应用 |
| WO2019205132A1 (zh) * | 2018-04-28 | 2019-10-31 | 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 |
| CN111373054B (zh) * | 2018-05-31 | 2024-06-25 | 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 |
| CA3111813A1 (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 |
| US12043873B2 (en) | 2022-03-21 | 2024-07-23 | Billiontoone, 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 |
| EP0920539B9 (en) | 1997-05-30 | 2006-08-02 | Xenomics | Methods for detection of nucleic acid sequences in urine |
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| US20020119478A1 (en) | 1997-05-30 | 2002-08-29 | Diagen Corporation | Methods for detection of nucleic acid sequences in urine |
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| SI2351858T1 (sl) | 2006-02-28 | 2015-06-30 | University Of Louisville Research Foundation Med Center Three, | Zaznavanje fetalnih kromosomskih nenormalnosti z uporabo tandema polimorfizmov posameznih nukleotidov |
| US20100184044A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
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| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
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| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| PL2562268T3 (pl) | 2008-09-20 | 2017-06-30 | The Board Of Trustees Of The Leland Stanford Junior University | Nieinwazyjna diagnostyka aneuploidii płodu za pomocą sekwencjonowania |
| CN103403183B (zh) | 2011-06-29 | 2014-10-15 | 深圳华大基因医学有限公司 | 胎儿遗传异常的无创性检测 |
-
2011
- 2011-06-29 CN CN201180067286.XA patent/CN103403183B/zh active Active
- 2011-06-29 AU AU2012261664A patent/AU2012261664B2/en active Active
- 2011-06-29 US US13/641,080 patent/US9547748B2/en active Active
- 2011-06-29 CA CA2948939A patent/CA2948939C/en active Active
- 2011-06-29 SI SI201130281T patent/SI2561103T1/sl unknown
- 2011-06-29 EP EP11863253.8A patent/EP2561103B1/en active Active
- 2011-06-29 PL PL11863253T patent/PL2561103T3/pl unknown
- 2011-06-29 KR KR1020127034453A patent/KR101489568B1/ko active Active
- 2011-06-29 MY MYPI2012005470A patent/MY172864A/en unknown
- 2011-06-29 CA CA2791118A patent/CA2791118C/en active Active
- 2011-06-29 JP JP2014517369A patent/JP5659319B2/ja active Active
- 2011-06-29 RU RU2012158107/15A patent/RU2589681C2/ru 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 BR BR112012033760-2A patent/BR112012033760B1/pt active IP Right Grant
- 2011-06-29 DK DK11863253.8T patent/DK2561103T3/da active
- 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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