JP2014507134A5 - - Google Patents
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- JP2014507134A5 JP2014507134A5 JP2013547929A JP2013547929A JP2014507134A5 JP 2014507134 A5 JP2014507134 A5 JP 2014507134A5 JP 2013547929 A JP2013547929 A JP 2013547929A JP 2013547929 A JP2013547929 A JP 2013547929A JP 2014507134 A5 JP2014507134 A5 JP 2014507134A5
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- JP
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- pregnant
- fetus
- mutations
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- 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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- 230000035772 mutation Effects 0.000 description 8
- 210000003754 fetus Anatomy 0.000 description 6
- 238000000034 method Methods 0.000 description 6
- 230000008774 maternal effect Effects 0.000 description 5
- 108700028369 Alleles Proteins 0.000 description 4
- 230000001605 fetal effect Effects 0.000 description 4
- 208000031220 Hemophilia Diseases 0.000 description 3
- 208000009292 Hemophilia A Diseases 0.000 description 3
- 238000001514 detection method Methods 0.000 description 3
- 238000001617 sequential probability ratio test Methods 0.000 description 3
- 238000003556 assay Methods 0.000 description 2
- 239000012472 biological sample Substances 0.000 description 2
- 210000000349 chromosome Anatomy 0.000 description 2
- 239000000523 sample Substances 0.000 description 2
- 108091034117 Oligonucleotide Proteins 0.000 description 1
- 238000004458 analytical method Methods 0.000 description 1
- 230000037430 deletion Effects 0.000 description 1
- 238000012217 deletion Methods 0.000 description 1
- 238000010586 diagram Methods 0.000 description 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 1
- 230000002068 genetic effect Effects 0.000 description 1
- 238000003205 genotyping method Methods 0.000 description 1
- 239000000203 mixture Substances 0.000 description 1
- 108020004707 nucleic acids Proteins 0.000 description 1
- 150000007523 nucleic acids Chemical class 0.000 description 1
- 102000039446 nucleic acids Human genes 0.000 description 1
- 230000035935 pregnancy Effects 0.000 description 1
- 108090000623 proteins and genes Proteins 0.000 description 1
- 238000003753 real-time PCR Methods 0.000 description 1
- 238000010200 validation analysis Methods 0.000 description 1
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161430032P | 2011-01-05 | 2011-01-05 | |
| US61/430,032 | 2011-01-05 | ||
| US201161475632P | 2011-04-14 | 2011-04-14 | |
| US61/475,632 | 2011-04-14 | ||
| PCT/IB2012/000015 WO2012093331A1 (en) | 2011-01-05 | 2012-01-05 | Noninvasive prenatal genotyping of fetal sex chromosomes |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2014507134A JP2014507134A (ja) | 2014-03-27 |
| JP2014507134A5 true JP2014507134A5 (enExample) | 2014-09-04 |
| JP6105485B2 JP6105485B2 (ja) | 2017-04-05 |
Family
ID=46457270
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2013547929A Active JP6105485B2 (ja) | 2011-01-05 | 2012-01-05 | 胎児の性染色体遺伝子型の非侵襲的出生前同定 |
Country Status (7)
| Country | Link |
|---|---|
| US (3) | US10152568B2 (enExample) |
| EP (3) | EP3680909B1 (enExample) |
| JP (1) | JP6105485B2 (enExample) |
| CN (1) | CN103459614B (enExample) |
| AU (1) | AU2012204748C1 (enExample) |
| CA (1) | CA2823618C (enExample) |
| WO (1) | WO2012093331A1 (enExample) |
Families Citing this family (17)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | 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 |
| EA202190075A3 (ru) * | 2013-02-28 | 2021-07-30 | Те Чайниз Юниверсити Ов Гонконг | Анализ транскриптома материнской плазмы с применением массивного параллельного секвенирования рнк |
| EP3011051B1 (en) | 2013-06-21 | 2019-01-30 | Sequenom, Inc. | Method for non-invasive assessment of genetic variations |
| US10612080B2 (en) * | 2014-09-22 | 2020-04-07 | Roche Molecular Systems, Inc. | Digital PCR for non-invasive prenatal testing |
| US10208339B2 (en) * | 2015-02-19 | 2019-02-19 | Takara Bio Usa, Inc. | Systems and methods for whole genome amplification |
| EP3739061B1 (en) * | 2015-07-20 | 2022-03-23 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in dna mixture |
| WO2018064486A1 (en) | 2016-09-29 | 2018-04-05 | Counsyl, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| WO2018090991A1 (en) * | 2016-11-18 | 2018-05-24 | The Chinese University Of Hong Kong | Universal haplotype-based noninvasive prenatal testing for single gene diseases |
| EP3596233B1 (en) | 2017-03-17 | 2022-05-18 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| TWI833715B (zh) | 2017-10-27 | 2024-03-01 | 美商奇諾診療公司 | 用於超低體積液體生物檢體之裝置、系統及方法 |
| CA3095030A1 (en) | 2018-03-30 | 2019-10-03 | Juno Diagnostics, Inc. | Deep learning-based methods, devices, and systems for prenatal testing |
| EP3815092A2 (en) | 2018-06-29 | 2021-05-05 | F. Hoffmann-La Roche AG | Detection of microsatellite instability |
| WO2020090947A1 (ja) * | 2018-10-31 | 2020-05-07 | 合同会社みらか中央研究所 | プログラム、学習モデル、情報処理装置、情報処理方法、情報表示方法および学習モデルの製造方法 |
| KR102261474B1 (ko) * | 2019-07-12 | 2021-06-07 | 주식회사 젠큐릭스 | 자동 경계화를 이용한 데이터 처리 방법 및 시스템 |
| CN110993024B (zh) * | 2019-12-20 | 2023-08-22 | 北京科迅生物技术有限公司 | 建立胎儿浓度校正模型的方法及装置与胎儿浓度定量的方法及装置 |
| CN117711488B (zh) * | 2023-11-29 | 2024-07-02 | 东莞博奥木华基因科技有限公司 | 一种基于长读长测序的基因单倍型检测方法及其应用 |
Family Cites Families (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB9704444D0 (en) * | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US6440706B1 (en) | 1999-08-02 | 2002-08-27 | Johns Hopkins University | Digital amplification |
| JP2001269196A (ja) * | 2000-03-24 | 2001-10-02 | Hamamatsu Photonics Kk | 被検体核酸の定量方法、および被検体核酸の分子数の計数方法 |
| US20030180765A1 (en) | 2002-02-01 | 2003-09-25 | The Johns Hopkins University | Digital amplification for detection of mismatch repair deficient tumor cells |
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| US7727720B2 (en) | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| AU2004270220B2 (en) | 2003-09-05 | 2009-03-05 | The Chinese University Of Hong Kong | Method for non-invasive prenatal diagnosis |
| US20050282213A1 (en) * | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
| TR201910868T4 (tr) | 2006-02-02 | 2019-08-21 | Univ Leland Stanford Junior | Dijital analizle invazif olmayan fetal genetik tarama. |
| EP3892736A1 (en) * | 2007-07-23 | 2021-10-13 | The Chinese University of Hong Kong | Determining a nucleic acid sequence imbalance |
| PT3663411T (pt) | 2008-08-12 | 2022-01-14 | Stokes Bio Ltd | Métodos para pcr digital |
| CA3207599A1 (en) * | 2010-05-18 | 2011-11-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
-
2012
- 2012-01-05 CA CA2823618A patent/CA2823618C/en active Active
- 2012-01-05 EP EP20151773.7A patent/EP3680909B1/en active Active
- 2012-01-05 US US13/978,358 patent/US10152568B2/en active Active
- 2012-01-05 WO PCT/IB2012/000015 patent/WO2012093331A1/en not_active Ceased
- 2012-01-05 JP JP2013547929A patent/JP6105485B2/ja active Active
- 2012-01-05 CN CN201280010828.4A patent/CN103459614B/zh active Active
- 2012-01-05 EP EP21172847.2A patent/EP3901955B1/en active Active
- 2012-01-05 AU AU2012204748A patent/AU2012204748C1/en active Active
- 2012-01-05 EP EP12732095.0A patent/EP2661507B1/en active Active
-
2018
- 2018-10-23 US US16/168,567 patent/US20190042693A1/en not_active Abandoned
-
2024
- 2024-05-06 US US18/656,503 patent/US20240420798A1/en active Pending
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