JP2014507158A5 - - Google Patents
Download PDFInfo
- Publication number
- JP2014507158A5 JP2014507158A5 JP2013554948A JP2013554948A JP2014507158A5 JP 2014507158 A5 JP2014507158 A5 JP 2014507158A5 JP 2013554948 A JP2013554948 A JP 2013554948A JP 2013554948 A JP2013554948 A JP 2013554948A JP 2014507158 A5 JP2014507158 A5 JP 2014507158A5
- Authority
- JP
- Japan
- Prior art keywords
- allele
- loci
- biological sample
- fetal
- chromosomal region
- 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.)
- Granted
Links
- 108700028369 Alleles Proteins 0.000 claims 56
- 238000000034 method Methods 0.000 claims 56
- 230000002759 chromosomal effect Effects 0.000 claims 38
- 238000010606 normalization Methods 0.000 claims 33
- 230000001605 fetal effect Effects 0.000 claims 32
- 239000012472 biological sample Substances 0.000 claims 29
- 210000003754 fetus Anatomy 0.000 claims 23
- 108020004414 DNA Proteins 0.000 claims 21
- 238000009826 distribution Methods 0.000 claims 16
- 102000054766 genetic haplotypes Human genes 0.000 claims 14
- 101150108975 Rhd gene Proteins 0.000 claims 8
- 238000005259 measurement Methods 0.000 claims 8
- 239000000203 mixture Substances 0.000 claims 7
- 238000001514 detection method Methods 0.000 claims 6
- 230000008774 maternal effect Effects 0.000 claims 6
- 230000001973 epigenetic effect Effects 0.000 claims 4
- 230000007067 DNA methylation Effects 0.000 claims 2
- 210000002593 Y chromosome Anatomy 0.000 claims 2
- 230000001419 dependent effect Effects 0.000 claims 2
- 238000003753 real-time PCR Methods 0.000 claims 2
- 238000000926 separation method Methods 0.000 claims 2
- 238000012163 sequencing technique Methods 0.000 claims 2
- 108091092878 Microsatellite Proteins 0.000 claims 1
- 238000004458 analytical method Methods 0.000 claims 1
- 238000007847 digital PCR Methods 0.000 claims 1
- 239000012634 fragment Substances 0.000 claims 1
- 230000002068 genetic effect Effects 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- OOYGSFOGFJDDHP-KMCOLRRFSA-N kanamycin A sulfate Chemical group OS(O)(=O)=O.O[C@@H]1[C@@H](O)[C@H](O)[C@@H](CN)O[C@@H]1O[C@H]1[C@H](O)[C@@H](O[C@@H]2[C@@H]([C@@H](N)[C@H](O)[C@@H](CO)O2)O)[C@H](N)C[C@@H]1N OOYGSFOGFJDDHP-KMCOLRRFSA-N 0.000 claims 1
- 239000003550 marker Substances 0.000 claims 1
- 238000004949 mass spectrometry Methods 0.000 claims 1
- 238000005215 recombination Methods 0.000 claims 1
- 230000006798 recombination Effects 0.000 claims 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161446256P | 2011-02-24 | 2011-02-24 | |
| US61/446,256 | 2011-02-24 | ||
| PCT/IB2012/000344 WO2013041921A1 (en) | 2011-02-24 | 2012-02-24 | Molecular testing of multiple pregnancies |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2015217329A Division JP6068598B2 (ja) | 2011-02-24 | 2015-11-05 | 多胎妊娠の分子検査 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2014507158A JP2014507158A (ja) | 2014-03-27 |
| JP2014507158A5 true JP2014507158A5 (enExample) | 2014-05-08 |
| JP5837622B2 JP5837622B2 (ja) | 2015-12-24 |
Family
ID=47753591
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2013554948A Active JP5837622B2 (ja) | 2011-02-24 | 2012-02-24 | 多胎妊娠の分子検査 |
| JP2015217329A Active JP6068598B2 (ja) | 2011-02-24 | 2015-11-05 | 多胎妊娠の分子検査 |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2015217329A Active JP6068598B2 (ja) | 2011-02-24 | 2015-11-05 | 多胎妊娠の分子検査 |
Country Status (8)
| Country | Link |
|---|---|
| US (2) | US10900080B2 (enExample) |
| EP (5) | EP3202921B1 (enExample) |
| JP (2) | JP5837622B2 (enExample) |
| CN (2) | CN106011237B (enExample) |
| AU (1) | AU2012311262C1 (enExample) |
| CA (3) | CA3160848C (enExample) |
| TW (1) | TWI611186B (enExample) |
| WO (1) | WO2013041921A1 (enExample) |
Families Citing this family (37)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| LT3241914T (lt) | 2009-11-05 | 2019-04-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US20240158855A1 (en) | 2010-05-18 | 2024-05-16 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US12545960B2 (en) | 2010-05-18 | 2026-02-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US12655483B2 (en) | 2010-05-18 | 2026-06-16 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11322224B2 (en) * | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| AU2011348100B2 (en) | 2010-12-22 | 2016-08-25 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| EP3202921B1 (en) | 2011-02-24 | 2019-02-13 | The Chinese University of Hong Kong | Molecular testing of multiple pregnancies |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| JP2015517317A (ja) * | 2012-05-23 | 2015-06-22 | ビージーアイ ダイアグノーシス カンパニー リミテッドＢｇｉ Ｄｉａｇｎｏｓｉｓ Ｃｏ．， Ｌｔｄ． | 双子の類型を鑑定する方法とシステム |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| TWI489305B (zh) * | 2012-11-21 | 2015-06-21 | Bgi Diagnosis Co Ltd | 對胎兒遺傳異常的無創性檢測 |
| ES2670544T3 (es) * | 2013-02-28 | 2018-05-30 | The Chinese University Of Hong Kong | Análisis de transcriptoma de plasma materno por secuenciación masiva en paralelo de ARN |
| CN105121660B (zh) * | 2013-03-15 | 2018-09-28 | 香港中文大学 | 确定多胎妊娠的胎儿基因组 |
| DK3011051T3 (en) | 2013-06-21 | 2019-04-23 | Sequenom Inc | Method for non-invasive evaluation of genetic variations |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| RU2717641C2 (ru) | 2014-04-21 | 2020-03-24 | Натера, Инк. | Обнаружение мутаций и плоидности в хромосомных сегментах |
| US20180173845A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| WO2017012544A1 (en) * | 2015-07-20 | 2017-01-26 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in dna mixture |
| CA3037366A1 (en) | 2016-09-29 | 2018-04-05 | Myriad Women's Health, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| EP3998350B1 (en) | 2017-03-17 | 2025-05-07 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| US11441174B2 (en) | 2017-06-02 | 2022-09-13 | Affymetrix, Inc. | Array-based methods for analysing mixed samples using differently labelled allele-specific probes |
| WO2018223057A1 (en) * | 2017-06-02 | 2018-12-06 | Affymetrix, Inc. | Array-based methods for analysing mixed samples using different allele-specific labels, in particular for detection of fetal aneuploidies |
| WO2018223055A1 (en) * | 2017-06-02 | 2018-12-06 | Affymetrix, Inc. | Array-based methods for analysing mixed samples using differently labelled allele-specific probes |
| US11990208B2 (en) | 2017-06-20 | 2024-05-21 | Illumina, Inc. | Methods for accurate computational decomposition of DNA mixtures from contributors of unknown genotypes |
| DK3781714T3 (da) | 2018-04-14 | 2026-03-30 | Natera Inc | Fremgangsmåder til cancerpåvisning og -overvågning ved personlig påvisning af cirkulerende tumor-dna |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| CN112634986B (zh) * | 2019-09-24 | 2024-07-26 | 厦门赛尔吉亚医学检验所有限公司 | 一种基于孕妇外周血对双胞胎合子性质的无创鉴定方法 |
| KR102162831B1 (ko) | 2019-12-26 | 2020-10-08 | 주식회사 마크로젠 | 혼합 모델을 이용한 쌍태아의 접합성 타입 결정 방법 및 분석 장치 |
| US20230227897A1 (en) * | 2020-12-16 | 2023-07-20 | Seedna Inc. | Method for calculating the fidelity of the signal of polymorphic genetic loci |
| CN114214425B (zh) * | 2020-12-23 | 2024-01-19 | 上海亿康医学检验所有限公司 | 一种鉴定核酸样本的亲本倾向性的方法或装置 |
| CN113981062B (zh) * | 2021-10-14 | 2024-02-20 | 武汉蓝沙医学检验实验室有限公司 | 以非生父和母亲dna评估胎儿dna浓度的方法及应用 |
| WO2023120783A1 (ko) * | 2021-12-24 | 2023-06-29 | 주식회사 마크로젠 | 혼합 모델을 이용한 쌍태아의 접합성 타입 결정 방법 및 분석 장치 |
| CN116052766B (zh) * | 2023-01-09 | 2026-01-02 | 北京交通大学 | 一种染色体纯合区域的检测方法、系统及电子设备 |
| CN120412715B (zh) * | 2025-03-17 | 2025-11-28 | 上海蓝沙生物科技有限公司 | 一种通过多态性位点连锁区域块评估孕期母本游离血液中胎儿DNA浓度（cffDNA）的方法 |
Family Cites Families (26)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US6013449A (en) * | 1997-11-26 | 2000-01-11 | The United States Of America As Represented By The Department Of Health And Human Services | Probe-based analysis of heterozygous mutations using two-color labelling |
| CA2428757A1 (en) * | 2000-11-15 | 2002-07-18 | Roche Diagnostics Corporation | Methods and reagents for identifying rare fetal cells in the maternal circulation |
| 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 |
| WO2003031646A1 (en) | 2001-10-12 | 2003-04-17 | The University Of Queensland | Multiple genetic marker selection and amplification |
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| US7709194B2 (en) | 2004-06-04 | 2010-05-04 | The Chinese University Of Hong Kong | Marker for prenatal diagnosis and monitoring |
| ES2299059T3 (es) | 2004-07-01 | 2008-05-16 | Integragen | Gen de predisposicion al autismo humano que codifica para un factor de transcripcion y utilizaciones del mismo. |
| US7754428B2 (en) | 2006-05-03 | 2010-07-13 | The Chinese University Of Hong Kong | Fetal methylation markers |
| EP2029779A4 (en) | 2006-06-14 | 2010-01-20 | Living Microsystems Inc | HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS |
| US12054776B2 (en) * | 2007-07-23 | 2024-08-06 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing |
| SG157299A1 (en) | 2008-05-09 | 2009-12-29 | Agency Science Tech & Res | Diagnosis and treatment of kawasaki disease |
| 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 |
| CN104531837A (zh) | 2008-12-22 | 2015-04-22 | 赛卢拉有限公司 | 检测等位基因、基因组和转录物组的方法和基因型分析谱 |
| LT3241914T (lt) | 2009-11-05 | 2019-04-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US20110312503A1 (en) * | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
| US10316362B2 (en) * | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US20120190021A1 (en) * | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
| JP6153874B2 (ja) * | 2011-02-09 | 2017-06-28 | ナテラ， インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
| EP3202921B1 (en) | 2011-02-24 | 2019-02-13 | The Chinese University of Hong Kong | Molecular testing of multiple pregnancies |
| ES2572912T3 (es) | 2011-04-12 | 2016-06-03 | Verinata Health, Inc | Resolución de fracciones de genoma mediante recuento de polimorfismos |
| CN102985561B (zh) | 2011-04-14 | 2015-04-01 | 维里纳塔健康公司 | 用于确定并且验证常见的和罕见的染色体非整倍性的归一化染色体 |
| WO2013052913A2 (en) * | 2011-10-06 | 2013-04-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN105121660B (zh) | 2013-03-15 | 2018-09-28 | 香港中文大学 | 确定多胎妊娠的胎儿基因组 |
-
2012
- 2012-02-24 EP EP17161168.4A patent/EP3202921B1/en active Active
- 2012-02-24 EP EP12834099.9A patent/EP2678451B1/en active Active
- 2012-02-24 US US13/405,073 patent/US10900080B2/en active Active
- 2012-02-24 WO PCT/IB2012/000344 patent/WO2013041921A1/en not_active Ceased
- 2012-02-24 AU AU2012311262A patent/AU2012311262C1/en active Active
- 2012-02-24 CN CN201610340015.1A patent/CN106011237B/zh active Active
- 2012-02-24 EP EP13187208.7A patent/EP2682887A2/en not_active Withdrawn
- 2012-02-24 JP JP2013554948A patent/JP5837622B2/ja active Active
- 2012-02-24 TW TW101106446A patent/TWI611186B/zh active
- 2012-02-24 EP EP14193704.5A patent/EP2860265B1/en active Active
- 2012-02-24 CA CA3160848A patent/CA3160848C/en active Active
- 2012-02-24 CA CA3252077A patent/CA3252077A1/en active Pending
- 2012-02-24 CN CN201280016005.2A patent/CN103492589B/zh active Active
- 2012-02-24 CA CA2827873A patent/CA2827873C/en active Active
- 2012-02-24 EP EP18213644.0A patent/EP3489368B1/en active Active
-
2015
- 2015-11-05 JP JP2015217329A patent/JP6068598B2/ja active Active
-
2020
- 2020-12-15 US US17/122,397 patent/US20210095340A1/en not_active Abandoned
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| AU2023200786B2 (en) | Maternal plasma transcriptome analysis by massively parallel RNA sequencing | |
| EP3202921B1 (en) | Molecular testing of multiple pregnancies | |
| EP2661507B1 (en) | Noninvasive prenatal genotyping of fetal sex chromosomes | |
| JP2013509884A5 (enExample) | ||
| TWI767888B (zh) | 藉由母體血漿ｄｎａ之淺深度測序以準確定量胎兒ｄｎａ含量 | |
| TWI889083B (zh) | 可實施２種以上檢測的遺傳學分析方法 | |
| EP2971126B1 (en) | Determining fetal genomes for multiple fetus pregnancies | |
| JP2016518811A5 (enExample) | ||
| HK40002656A (en) | Molecular testing of multiple pregnancies | |
| HK40002656B (en) | Molecular testing of multiple pregnancies | |
| HK1260856A1 (en) | Determining fetal genomes for multiple fetus pregnancies | |
| HK1194163A (en) | Determining fetal dna percentage for twins | |
| HK1192765A (en) | Molecular testing of multiple pregnancies | |
| HK1192765B (en) | Molecular testing of multiple pregnancies | |
| AU2015227510A1 (en) | Noninvasive prenatal genotyping of fetal sex chromosomes | |
| HK1203567B (en) | Determining fetal dna percentage for twins |