JP2014534507A5 - - Google Patents
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- JP2014534507A5 JP2014534507A5 JP2014534806A JP2014534806A JP2014534507A5 JP 2014534507 A5 JP2014534507 A5 JP 2014534507A5 JP 2014534806 A JP2014534806 A JP 2014534806A JP 2014534806 A JP2014534806 A JP 2014534806A JP 2014534507 A5 JP2014534507 A5 JP 2014534507A5
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- trisomy
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- 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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- 210000000349 chromosome Anatomy 0.000 claims description 128
- 230000001605 fetal effect Effects 0.000 claims description 78
- 238000000034 method Methods 0.000 claims description 51
- 208000037280 Trisomy Diseases 0.000 claims description 48
- 238000012360 testing method Methods 0.000 claims description 40
- 239000012634 fragment Substances 0.000 claims description 28
- 210000003754 fetus Anatomy 0.000 claims description 17
- 238000005259 measurement Methods 0.000 claims description 13
- 208000036878 aneuploidy Diseases 0.000 claims description 11
- 150000007523 nucleic acids Chemical class 0.000 claims description 11
- 102000039446 nucleic acids Human genes 0.000 claims description 11
- 108020004707 nucleic acids Proteins 0.000 claims description 11
- 231100001075 aneuploidy Toxicity 0.000 claims description 10
- 230000002759 chromosomal effect Effects 0.000 claims description 10
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 claims description 10
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 claims description 10
- 230000035945 sensitivity Effects 0.000 claims description 10
- 238000012163 sequencing technique Methods 0.000 claims description 7
- 229940104302 cytosine Drugs 0.000 claims description 5
- 238000012417 linear regression Methods 0.000 claims description 5
- 238000013507 mapping Methods 0.000 claims description 5
- 239000002773 nucleotide Substances 0.000 claims description 5
- 125000003729 nucleotide group Chemical group 0.000 claims description 5
- 239000000523 sample Substances 0.000 description 38
- 230000008774 maternal effect Effects 0.000 description 17
- 238000012217 deletion Methods 0.000 description 15
- 230000037430 deletion Effects 0.000 description 15
- 238000009826 distribution Methods 0.000 description 15
- 230000006870 function Effects 0.000 description 11
- 201000010374 Down Syndrome Diseases 0.000 description 9
- 208000026487 Triploidy Diseases 0.000 description 9
- 206010044688 Trisomy 21 Diseases 0.000 description 9
- 230000001186 cumulative effect Effects 0.000 description 9
- 238000002790 cross-validation Methods 0.000 description 7
- 210000001766 X chromosome Anatomy 0.000 description 5
- 238000012937 correction Methods 0.000 description 5
- 230000009897 systematic effect Effects 0.000 description 5
- 238000012795 verification Methods 0.000 description 5
- 239000000654 additive Substances 0.000 description 4
- 230000000996 additive effect Effects 0.000 description 4
- 238000004088 simulation Methods 0.000 description 4
- 230000005856 abnormality Effects 0.000 description 3
- 238000004364 calculation method Methods 0.000 description 3
- 238000010606 normalization Methods 0.000 description 3
- 208000020584 Polyploidy Diseases 0.000 description 2
- 210000002593 Y chromosome Anatomy 0.000 description 2
- 230000002159 abnormal effect Effects 0.000 description 2
- 238000003556 assay Methods 0.000 description 2
- 238000005314 correlation function Methods 0.000 description 2
- 230000000875 corresponding effect Effects 0.000 description 2
- 239000013610 patient sample Substances 0.000 description 2
- 238000000692 Student's t-test Methods 0.000 description 1
- 208000034790 Twin pregnancy Diseases 0.000 description 1
- 238000004458 analytical method Methods 0.000 description 1
- 230000003322 aneuploid effect Effects 0.000 description 1
- 230000001174 ascending effect Effects 0.000 description 1
- 230000006399 behavior Effects 0.000 description 1
- 238000004422 calculation algorithm Methods 0.000 description 1
- 230000002596 correlated effect Effects 0.000 description 1
- 239000006185 dispersion Substances 0.000 description 1
- 238000003708 edge detection Methods 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 238000001914 filtration Methods 0.000 description 1
- 230000000873 masking effect Effects 0.000 description 1
- 238000000926 separation method Methods 0.000 description 1
- 239000007787 solid Substances 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 238000012353 t test Methods 0.000 description 1
Applications Claiming Priority (7)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161544251P | 2011-10-06 | 2011-10-06 | |
| US61/544,251 | 2011-10-06 | ||
| US201261663477P | 2012-06-22 | 2012-06-22 | |
| US61/663,477 | 2012-06-22 | ||
| US201261709899P | 2012-10-04 | 2012-10-04 | |
| US61/709,899 | 2012-10-04 | ||
| PCT/US2012/059123 WO2013052913A2 (en) | 2011-10-06 | 2012-10-05 | Methods and processes for non-invasive assessment of genetic variations |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016216922A Division JP6227095B2 (ja) | 2011-10-06 | 2016-11-07 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2014534507A JP2014534507A (ja) | 2014-12-18 |
| JP2014534507A5 true JP2014534507A5 (https=) | 2015-10-29 |
| JP6073902B2 JP6073902B2 (ja) | 2017-02-01 |
Family
ID=47073532
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014534806A Active JP6073902B2 (ja) | 2011-10-06 | 2012-10-05 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
| JP2016216922A Active JP6227095B2 (ja) | 2011-10-06 | 2016-11-07 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
| JP2017045068A Withdrawn JP2017099419A (ja) | 2011-10-06 | 2017-03-09 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016216922A Active JP6227095B2 (ja) | 2011-10-06 | 2016-11-07 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
| JP2017045068A Withdrawn JP2017099419A (ja) | 2011-10-06 | 2017-03-09 | 遺伝的変異の非侵襲的評価のための方法およびプロセス |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US20230112134A1 (https=) |
| EP (2) | EP3922731A3 (https=) |
| JP (3) | JP6073902B2 (https=) |
| AU (1) | AU2012318371B2 (https=) |
| CA (1) | CA2850781C (https=) |
| DK (1) | DK2764459T3 (https=) |
| ES (1) | ES2886508T3 (https=) |
| WO (1) | WO2013052913A2 (https=) |
Families Citing this family (82)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP3263177B2 (ja) | 1993-04-15 | 2002-03-04 | 東レ・ダウコーニング・シリコーン株式会社 | エポキシ基含有シリコーンレジンおよびその製造方法 |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| 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 |
| ES2577017T3 (es) | 2009-12-22 | 2016-07-12 | Sequenom, Inc. | Procedimientos y kits para identificar la aneuploidia |
| CA2827873C (en) | 2011-02-24 | 2022-08-16 | The Chinese University Of Hong Kong | Molecular testing of multiple pregnancies |
| US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
| WO2013052907A2 (en) | 2011-10-06 | 2013-04-11 | 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 |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
| CA2861856C (en) | 2012-01-20 | 2020-06-02 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| EP2820129A1 (en) | 2012-03-02 | 2015-01-07 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP3978621B1 (en) | 2012-05-21 | 2023-08-30 | 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 |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US10497461B2 (en) | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20140093873A1 (en) | 2012-07-13 | 2014-04-03 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US10482994B2 (en) * | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
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| US10844424B2 (en) | 2013-02-20 | 2020-11-24 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
| CN105229168B (zh) | 2013-02-20 | 2020-07-17 | 生物纳米基因有限公司 | 纳米流体中分子的表征 |
| US11060145B2 (en) | 2013-03-13 | 2021-07-13 | Sequenom, Inc. | Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus |
| US10930368B2 (en) | 2013-04-03 | 2021-02-23 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| KR102665592B1 (ko) * | 2013-05-24 | 2024-05-21 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| CA2913341A1 (en) * | 2013-05-30 | 2014-12-04 | Memorial Sloan-Kettering Cancer Center | System and method for automated prediction of vulnerabilities in biological samples |
| ES3037160T3 (en) * | 2013-06-21 | 2025-09-29 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| CN104450872A (zh) * | 2013-09-25 | 2015-03-25 | 上海市肿瘤研究所 | 一种高通量多样本多靶点单碱基分辨率的甲基化水平检测方法 |
| KR102384620B1 (ko) | 2013-10-04 | 2022-04-11 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| CN105874082B (zh) | 2013-10-07 | 2020-06-02 | 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 |
| US10851414B2 (en) * | 2013-10-18 | 2020-12-01 | Good Start Genetics, Inc. | Methods for determining carrier status |
| CN105830077B (zh) * | 2013-10-21 | 2019-07-09 | 维里纳塔健康公司 | 用于在确定拷贝数变异中改善检测的灵敏度的方法 |
| CN103540672B (zh) * | 2013-10-29 | 2015-04-08 | 中国科学技术大学 | 一种亲和核酸分子的快速鉴定和分离方法 |
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| 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 |
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| CA3069082C (en) * | 2008-09-20 | 2022-03-22 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| EP3514244B1 (en) | 2009-04-03 | 2021-07-07 | Sequenom, Inc. | Nucleic acid preparation methods |
| US8574842B2 (en) * | 2009-12-22 | 2013-11-05 | The Board Of Trustees Of The Leland Stanford Junior University | Direct molecular diagnosis of fetal aneuploidy |
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-
2012
- 2012-10-05 JP JP2014534806A patent/JP6073902B2/ja active Active
- 2012-10-05 WO PCT/US2012/059123 patent/WO2013052913A2/en not_active Ceased
- 2012-10-05 AU AU2012318371A patent/AU2012318371B2/en active Active
- 2012-10-05 DK DK12777999.9T patent/DK2764459T3/da active
- 2012-10-05 ES ES12777999T patent/ES2886508T3/es active Active
- 2012-10-05 EP EP21182355.4A patent/EP3922731A3/en active Pending
- 2012-10-05 CA CA2850781A patent/CA2850781C/en active Active
- 2012-10-05 EP EP12777999.9A patent/EP2764459B1/en active Active
-
2016
- 2016-11-07 JP JP2016216922A patent/JP6227095B2/ja active Active
-
2017
- 2017-03-09 JP JP2017045068A patent/JP2017099419A/ja not_active Withdrawn
-
2022
- 2022-12-13 US US18/080,620 patent/US20230112134A1/en active Pending
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