JP2018500876A5 - - Google Patents
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- JP2018500876A5 JP2018500876A5 JP2017518990A JP2017518990A JP2018500876A5 JP 2018500876 A5 JP2018500876 A5 JP 2018500876A5 JP 2017518990 A JP2017518990 A JP 2017518990A JP 2017518990 A JP2017518990 A JP 2017518990A JP 2018500876 A5 JP2018500876 A5 JP 2018500876A5
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- 238000000034 method Methods 0.000 claims description 368
- 239000002773 nucleotide Substances 0.000 claims description 116
- 125000003729 nucleotide group Chemical group 0.000 claims description 116
- 238000012163 sequencing technique Methods 0.000 claims description 80
- 238000012360 testing method Methods 0.000 claims description 62
- 230000001605 fetal effect Effects 0.000 claims description 45
- 230000007614 genetic variation Effects 0.000 claims description 44
- 238000012549 training Methods 0.000 claims description 28
- 108020004707 nucleic acids Proteins 0.000 claims description 24
- 150000007523 nucleic acids Chemical class 0.000 claims description 24
- 102000039446 nucleic acids Human genes 0.000 claims description 24
- 238000000638 solvent extraction Methods 0.000 claims description 20
- 210000003754 fetus Anatomy 0.000 claims description 16
- 238000013507 mapping Methods 0.000 claims description 11
- 230000035935 pregnancy Effects 0.000 claims description 6
- 210000000349 chromosome Anatomy 0.000 description 84
- 238000010606 normalization Methods 0.000 description 36
- 230000002759 chromosomal effect Effects 0.000 description 29
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 16
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 16
- 238000012217 deletion Methods 0.000 description 12
- 230000037430 deletion Effects 0.000 description 12
- 238000003780 insertion Methods 0.000 description 12
- 230000037431 insertion Effects 0.000 description 12
- 229940104302 cytosine Drugs 0.000 description 8
- 230000011218 segmentation Effects 0.000 description 7
- 108091028043 Nucleic acid sequence Proteins 0.000 description 3
- 238000000354 decomposition reaction Methods 0.000 description 1
- 238000009877 rendering Methods 0.000 description 1
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2020187745A JP7773301B2 (ja) | 2014-10-10 | 2020-11-11 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462062748P | 2014-10-10 | 2014-10-10 | |
| US62/062,748 | 2014-10-10 | ||
| PCT/US2015/054903 WO2016057901A1 (en) | 2014-10-10 | 2015-10-09 | Methods and processes for non-invasive assessment of genetic variations |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2020187745A Division JP7773301B2 (ja) | 2014-10-10 | 2020-11-11 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2018500876A JP2018500876A (ja) | 2018-01-18 |
| JP2018500876A5 true JP2018500876A5 (enExample) | 2018-09-27 |
| JP6971845B2 JP6971845B2 (ja) | 2021-11-24 |
Family
ID=54352504
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2017518990A Active JP6971845B2 (ja) | 2014-10-10 | 2015-10-09 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
| JP2020187745A Active JP7773301B2 (ja) | 2014-10-10 | 2020-11-11 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
| JP2022191456A Pending JP2023022220A (ja) | 2014-10-10 | 2022-11-30 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2020187745A Active JP7773301B2 (ja) | 2014-10-10 | 2020-11-11 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
| JP2022191456A Pending JP2023022220A (ja) | 2014-10-10 | 2022-11-30 | 遺伝子の変動の非侵襲的評価のための方法および処理 |
Country Status (6)
| Country | Link |
|---|---|
| US (3) | US10892035B2 (enExample) |
| EP (2) | EP3204512B1 (enExample) |
| JP (3) | JP6971845B2 (enExample) |
| AU (3) | AU2015330734B2 (enExample) |
| CA (1) | CA2964158A1 (enExample) |
| WO (1) | WO2016057901A1 (enExample) |
Families Citing this family (33)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP2946345B1 (en) | 2013-01-17 | 2024-04-03 | Personalis, Inc. | Methods and systems for genetic analysis |
| EP3117011B1 (en) | 2014-03-13 | 2020-05-06 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP4026913A1 (en) | 2014-10-30 | 2022-07-13 | Personalis, Inc. | Methods for using mosaicism in nucleic acids sampled distal to their origin |
| US11299783B2 (en) | 2016-05-27 | 2022-04-12 | Personalis, Inc. | Methods and systems for genetic analysis |
| EP4043581A1 (en) | 2016-05-27 | 2022-08-17 | Sequenom, Inc. | Method for generating a paralog assay system |
| EP3491560A1 (en) | 2016-07-27 | 2019-06-05 | Sequenom, Inc. | Genetic copy number alteration classifications |
| CA3030894A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Methods for non-invasive assessment of genomic instability |
| EP3571615B1 (en) | 2017-01-20 | 2024-01-24 | Sequenom, Inc. | Methods for non-invasive assessment of genetic alterations |
| WO2018136881A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Sequencing adapter manufacture and use |
| CA3049457C (en) | 2017-01-20 | 2023-05-16 | Sequenom, Inc. | Methods for non-invasive assessment of copy number alterations |
| CA3207879A1 (en) | 2017-01-24 | 2018-08-02 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| EP3596233B1 (en) | 2017-03-17 | 2022-05-18 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| EP3655954A1 (en) | 2017-07-18 | 2020-05-27 | Congenica Ltd. | Screening system and method |
| GB2564847A (en) * | 2017-07-18 | 2019-01-30 | Congenica Ltd | Knowledgebase for non-invasive prenatal genetic screening and diagnosis |
| PL3658689T3 (pl) * | 2017-07-26 | 2021-10-18 | Trisomytest, S.R.O. | Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską |
| SK862017A3 (sk) * | 2017-08-24 | 2020-05-04 | Grendar Marian Doc Mgr Phd | Spôsob použitia fetálnej frakcie a chromozómovej reprezentácie pri určovaní aneuploidného stavu v neinvazívnom prenatálnom testovaní |
| WO2019226992A1 (en) * | 2018-05-24 | 2019-11-28 | The Trustees Of Columbia University In The City Of New York | Bacterial capture sequencing platform and methods of designing, constructing and using |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| EP3935581A4 (en) | 2019-03-04 | 2022-11-30 | Iocurrents, Inc. | DATA COMPRESSION AND COMMUNICATION USING MACHINE LEARNING |
| US20200303033A1 (en) * | 2019-03-18 | 2020-09-24 | Nantomics, Llc | System and method for data curation |
| CA3115513A1 (en) * | 2019-06-03 | 2020-12-10 | Illumina, Inc. | Limit of detection based quality control metric |
| US11403641B2 (en) * | 2019-06-28 | 2022-08-02 | Paypal, Inc. | Transactional probability analysis on radial time representation |
| US20220293227A1 (en) * | 2019-07-31 | 2022-09-15 | Somalogic Operating Co., Inc. | Method, apparatus, and computer-readable medium for adaptive normalization of analyte levels |
| US20240395357A1 (en) | 2019-10-31 | 2024-11-28 | Sequenom, Inc. | Application of mosaicism ratio in multifetal gestations and personalized risk assessment |
| EP4055610A4 (en) | 2019-11-05 | 2023-11-29 | Personalis, Inc. | ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES |
| JP7747670B2 (ja) * | 2020-06-18 | 2025-10-01 | パーソナリス，インコーポレイティド | 表面提示ペプチドを予測するための機械学習技術 |
| US20240038339A1 (en) * | 2020-08-09 | 2024-02-01 | Myriad Women's Health, Inc. | Bayesian sex caller |
| BR112023002772A2 (pt) * | 2020-08-15 | 2023-05-02 | Life Technologies Corp | Analisador de dna com biblioteca de escadas alelicas sintéticas |
| US11688507B2 (en) * | 2020-12-29 | 2023-06-27 | Kpn Innovations, Llc. | Systems and methods for generating a metabolic dysfunction nourishment program |
| CN113158950B (zh) * | 2021-04-30 | 2022-04-05 | 天津深析智能科技发展有限公司 | 一种重叠染色体自动分割方法 |
| EP4413580A4 (en) | 2021-10-05 | 2025-08-13 | Personalis Inc | PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING |
| CN116149049B (zh) * | 2023-02-28 | 2025-07-11 | 河北工业大学 | 一种利用非对称脉冲调控超连续谱中光畸形波的方法 |
Family Cites Families (31)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| CA2497988C (en) | 2002-09-06 | 2011-03-29 | The Trustees Of Boston University | Quantification of gene expression |
| US7820378B2 (en) | 2002-11-27 | 2010-10-26 | Sequenom, Inc. | Fragmentation-based methods and systems for sequence variation detection and discovery |
| WO2005010145A2 (en) | 2003-07-05 | 2005-02-03 | The Johns Hopkins University | Method and compositions for detection and enumeration of genetic variations |
| US20100216153A1 (en) * | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| AU2005308918B2 (en) | 2004-11-29 | 2012-09-27 | Sequenom, Inc. | Means and methods for detecting methylated DNA |
| WO2007140417A2 (en) | 2006-05-31 | 2007-12-06 | Sequenom, Inc. | Methods and compositions for the extraction and amplification of nucleic acid from a sample |
| AU2007260750A1 (en) | 2006-06-16 | 2007-12-21 | Sequenom, Inc. | Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample |
| WO2009032779A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
| EP2195452B1 (en) | 2007-08-29 | 2012-03-14 | Sequenom, Inc. | Methods and compositions for universal size-specific polymerase chain reaction |
| CA2718137A1 (en) | 2008-03-26 | 2009-10-01 | Sequenom, Inc. | Restriction endonuclease enhanced polymorphic sequence detection |
| AU2009293232B2 (en) | 2008-09-16 | 2015-05-14 | Sequenom Center For Molecular Medicine | 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 |
| EP3211095B1 (en) | 2009-04-03 | 2019-01-02 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
| EP2526415B1 (en) * | 2010-01-19 | 2017-05-03 | Verinata Health, Inc | Partition defined detection methods |
| EP4074838A1 (en) | 2010-01-19 | 2022-10-19 | Verinata Health, Inc. | Novel protocol for preparing sequencing libraries |
| WO2011143659A2 (en) | 2010-05-14 | 2011-11-17 | Fluidigm Corporation | Nucleic acid isolation methods |
| US9139874B2 (en) | 2011-07-07 | 2015-09-22 | Life Technologies Corporation | Bi-directional sequencing compositions and methods |
| CA2850785C (en) | 2011-10-06 | 2022-12-13 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| DK2766496T3 (en) | 2011-10-11 | 2017-05-15 | 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 |
| ES2902401T3 (es) | 2012-05-21 | 2022-03-28 | Sequenom Inc | Métodos y procesos para la evaluación no invasiva de variaciones genéticas |
| 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 |
| EP4187543A1 (en) * | 2013-04-03 | 2023-05-31 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2014190286A2 (en) | 2013-05-24 | 2014-11-27 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP3011051B1 (en) * | 2013-06-21 | 2019-01-30 | Sequenom, Inc. | Method for non-invasive assessment of genetic variations |
| BR112016007401B1 (pt) | 2013-10-04 | 2023-04-11 | Sequenom, Inc. | Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra |
| EP4227947A1 (en) * | 2013-10-21 | 2023-08-16 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| WO2016019042A1 (en) * | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
-
2015
- 2015-10-09 EP EP15785002.5A patent/EP3204512B1/en active Active
- 2015-10-09 CA CA2964158A patent/CA2964158A1/en active Pending
- 2015-10-09 US US15/517,107 patent/US10892035B2/en active Active
- 2015-10-09 WO PCT/US2015/054903 patent/WO2016057901A1/en not_active Ceased
- 2015-10-09 AU AU2015330734A patent/AU2015330734B2/en active Active
- 2015-10-09 EP EP20172801.1A patent/EP3730629A1/en active Pending
- 2015-10-09 JP JP2017518990A patent/JP6971845B2/ja active Active
-
2020
- 2020-11-11 JP JP2020187745A patent/JP7773301B2/ja active Active
-
2021
- 2021-01-04 US US17/140,426 patent/US20210272650A1/en active Pending
- 2021-12-07 AU AU2021282416A patent/AU2021282416B2/en active Active
-
2022
- 2022-11-30 JP JP2022191456A patent/JP2023022220A/ja active Pending
-
2024
- 2024-07-31 AU AU2024205243A patent/AU2024205243A1/en active Pending
-
2025
- 2025-01-17 US US19/026,416 patent/US20250239328A1/en active Pending
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