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) | EP3730629A1 (enExample) |
| JP (3) | JP6971845B2 (enExample) |
| AU (3) | AU2015330734B2 (enExample) |
| CA (1) | CA2964158A1 (enExample) |
| WO (1) | WO2016057901A1 (enExample) |
Families Citing this family (34)
| 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 |
| WO2014113204A1 (en) | 2013-01-17 | 2014-07-24 | Personalis, Inc. | Methods and systems for genetic analysis |
| US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10125399B2 (en) | 2014-10-30 | 2018-11-13 | 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 |
| US20170342477A1 (en) | 2016-05-27 | 2017-11-30 | Sequenom, Inc. | Methods for Detecting Genetic Variations |
| WO2018022906A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Methods for non-invasive assessment of genomic instability |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| CA3194557A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Sequencing adapter manufacture and use |
| WO2018136882A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Methods for non-invasive assessment of copy number alterations |
| US11929145B2 (en) | 2017-01-20 | 2024-03-12 | Sequenom, Inc | Methods for non-invasive assessment of genetic alterations |
| WO2018140521A1 (en) | 2017-01-24 | 2018-08-02 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| PT3596233T (pt) | 2017-03-17 | 2022-08-22 | Sequenom Inc | Métodos e processos para avaliação de mosaicismo genético |
| CN111433855A (zh) | 2017-07-18 | 2020-07-17 | 康捷尼科有限公司 | 筛查系统和方法 |
| GB2564847A (en) * | 2017-07-18 | 2019-01-30 | Congenica Ltd | Knowledgebase for non-invasive prenatal genetic screening and diagnosis |
| HRP20210826T1 (hr) * | 2017-07-26 | 2021-07-09 | Trisomytest, S.R.O. | Postupak neinvazivnog prenatalnog otkrivanja fetalnog kromosoma aneuploidija iz majčine krvi na temelju bayes mreže |
| 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 |
| US12260935B2 (en) * | 2019-06-03 | 2025-03-25 | 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 |
| BR112022001579A2 (pt) * | 2019-07-31 | 2022-04-19 | Somalogic Inc | Método, aparelho, e meio legível por computador para normalização adaptativa de níveis de analito |
| CA3159786A1 (en) | 2019-10-31 | 2021-05-06 | Sequenom, Inc. | Application of mosaicism ratio in multifetal gestations and personalized risk assessment |
| WO2021092066A1 (en) | 2019-11-05 | 2021-05-14 | Personalis, Inc. | Estimating tumor purity from single samples |
| WO2021257879A1 (en) * | 2020-06-18 | 2021-12-23 | Personalis Inc. | Machine-learning techniques for predicting surface-presenting peptides |
| 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 |
| KR102795708B1 (ko) * | 2020-11-27 | 2025-04-16 | 주식회사 지씨지놈 | 인공지능 기반 암 진단 및 암 종 예측방법 |
| 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 |
| CN1703521B (zh) | 2002-09-06 | 2011-11-16 | 波士顿大学信托人 | 基因表达的定量 |
| CA2507189C (en) | 2002-11-27 | 2018-06-12 | Sequenom, Inc. | Fragmentation-based methods and systems for sequence variation detection and discovery |
| CA2531105C (en) | 2003-07-05 | 2015-03-17 | 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 |
| WO2006056480A2 (en) | 2004-11-29 | 2006-06-01 | Klinikum Der Universität Regensburg | Means and methods for detecting methylated dna |
| EP3260556B1 (en) | 2006-05-31 | 2019-07-31 | Sequenom, Inc. | Methods for the extraction 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 |
| US9404150B2 (en) | 2007-08-29 | 2016-08-02 | Sequenom, Inc. | Methods and compositions for universal size-specific PCR |
| WO2009032779A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
| US8206926B2 (en) | 2008-03-26 | 2012-06-26 | Sequenom, Inc. | Restriction endonuclease enhanced polymorphic sequence detection |
| CA2737200C (en) | 2008-09-16 | 2020-03-31 | 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 |
| EP2414545B1 (en) | 2009-04-03 | 2017-01-11 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
| AU2010343277B2 (en) | 2010-01-19 | 2015-05-28 | Verinata Health, Inc. | Method for determining copy number variations |
| AU2011207561B2 (en) * | 2010-01-19 | 2014-02-20 | Verinata Health, Inc. | Partition defined detection methods |
| SG185544A1 (en) | 2010-05-14 | 2012-12-28 | Fluidigm Corp | Nucleic acid isolation methods |
| WO2013019361A1 (en) | 2011-07-07 | 2013-02-07 | Life Technologies Corporation | Sequencing methods |
| US20140242588A1 (en) | 2011-10-06 | 2014-08-28 | Sequenom, Inc | Methods and processes for non-invasive assessment of genetic variations |
| CA2851537C (en) | 2011-10-11 | 2020-12-29 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP2805280B1 (en) * | 2012-01-20 | 2022-10-05 | 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 |
| US10699800B2 (en) | 2013-05-24 | 2020-06-30 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| KR102299305B1 (ko) * | 2013-06-21 | 2021-09-06 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| DK3053071T3 (da) | 2013-10-04 | 2024-01-22 | Sequenom Inc | Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer |
| JP6534191B2 (ja) * | 2013-10-21 | 2019-06-26 | ベリナタ ヘルス インコーポレイテッド | コピー数変動を決定することにおける検出の感度を向上させるための方法 |
| EP3175000B1 (en) * | 2014-07-30 | 2020-07-29 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
-
2015
- 2015-10-09 JP JP2017518990A patent/JP6971845B2/ja active Active
- 2015-10-09 AU AU2015330734A patent/AU2015330734B2/en active Active
- 2015-10-09 CA CA2964158A patent/CA2964158A1/en active Pending
- 2015-10-09 EP EP20172801.1A patent/EP3730629A1/en active Pending
- 2015-10-09 WO PCT/US2015/054903 patent/WO2016057901A1/en not_active Ceased
- 2015-10-09 EP EP15785002.5A patent/EP3204512B1/en active Active
- 2015-10-09 US US15/517,107 patent/US10892035B2/en 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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