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 (36)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP4155401A1 (en) | 2012-03-02 | 2023-03-29 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN105190656B (zh) | 2013-01-17 | 2018-01-16 | 佩索纳里斯公司 | 用于遗传分析的方法和系统 |
| WO2015138774A1 (en) | 2014-03-13 | 2015-09-17 | 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 |
| WO2017205826A1 (en) | 2016-05-27 | 2017-11-30 | Sequenom, Inc. | Methods for detecting genetic variations |
| US11299783B2 (en) | 2016-05-27 | 2022-04-12 | Personalis, Inc. | Methods and systems for genetic analysis |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| EP3491561A1 (en) | 2016-07-27 | 2019-06-05 | Sequenom, Inc. | Methods for non-invasive assessment of genomic instability |
| CA3194557A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Sequencing adapter manufacture and use |
| CA3198931A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Methods for non-invasive assessment of genetic alterations |
| CA3049457C (en) | 2017-01-20 | 2023-05-16 | Sequenom, Inc. | Methods for non-invasive assessment of copy number alterations |
| CA3207879C (en) | 2017-01-24 | 2026-06-16 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| US11335461B1 (en) * | 2017-03-06 | 2022-05-17 | Cerner Innovation, Inc. | Predicting glycogen storage diseases (Pompe disease) and decision support |
| EP3998350B1 (en) | 2017-03-17 | 2025-05-07 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| GB2564847A (en) * | 2017-07-18 | 2019-01-30 | Congenica Ltd | Knowledgebase for non-invasive prenatal genetic screening and diagnosis |
| CN111433855A (zh) | 2017-07-18 | 2020-07-17 | 康捷尼科有限公司 | 筛查系统和方法 |
| EP3658689B1 (en) * | 2017-07-26 | 2021-03-24 | Trisomytest, s.r.o. | A method for non-invasive prenatal detection of fetal chromosome aneuploidy from maternal blood based on bayesian network |
| 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 |
| CN112384608A (zh) * | 2018-05-24 | 2021-02-19 | 纽约市哥伦比亚大学理事会 | 细菌捕获测序平台及其设计、构建和使用方法 |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| JP2022523564A (ja) | 2019-03-04 | 2022-04-25 | アイオーカレンツ， インコーポレイテッド | 機械学習を使用するデータ圧縮および通信 |
| 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 |
| WO2021021678A1 (en) * | 2019-07-31 | 2021-02-04 | Somalogic, Inc. | Method, apparatus, and computer-readable medium for adaptive normalization of analyte levels |
| CA3159786A1 (en) | 2019-10-31 | 2021-05-06 | Sequenom, Inc. | Application of mosaicism ratio in multifetal gestations and personalized risk assessment |
| JP7470787B2 (ja) | 2019-11-05 | 2024-04-18 | パーソナリス，インコーポレイティド | 単一試料からの腫瘍純度の推定 |
| EP4168569A4 (en) * | 2020-06-18 | 2024-08-07 | Personalis, Inc. | Machine-learning techniques for predicting surface-presenting peptides |
| WO2022035670A1 (en) * | 2020-08-09 | 2022-02-17 | Myriad Women's Health, Inc. | Bayesian sex caller |
| CA3191872A1 (en) * | 2020-08-15 | 2022-02-24 | Life Technologies Corporation | Dna analyzer with synthetic allelic ladder library |
| 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 |
| WO2023059654A1 (en) | 2021-10-05 | 2023-04-13 | Personalis, Inc. | Customized assays 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 |
| WO2026006629A1 (en) | 2024-06-27 | 2026-01-02 | Personalis, Inc. | System and method for management of compressed sequencing files |
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 |
| JP4683922B2 (ja) | 2002-09-06 | 2011-05-18 | トラスティーズ オブ ボストン ユニバーシティ | 遺伝子発現の定量方法 |
| CN1774511B (zh) | 2002-11-27 | 2013-08-21 | 斯昆诺有限公司 | 用于序列变异检测和发现的基于断裂的方法和系统 |
| US8048627B2 (en) | 2003-07-05 | 2011-11-01 | 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 |
| EP1817430B1 (en) | 2004-11-29 | 2009-09-16 | 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 |
| EP2038426A2 (en) | 2006-06-16 | 2009-03-25 | 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 |
| WO2009032781A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for universal size-specific polymerase chain reaction |
| WO2009120808A2 (en) | 2008-03-26 | 2009-10-01 | Sequenom, Inc. | Restriction endonuclease enhanced polymorphic sequence detection |
| EP3103871B1 (en) | 2008-09-16 | 2020-07-29 | Sequenom, Inc. | Processes for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for fetal nucleic acid quantification |
| 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 |
| US8771948B2 (en) | 2009-04-03 | 2014-07-08 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
| US8700341B2 (en) * | 2010-01-19 | 2014-04-15 | Verinata Health, Inc. | Partition defined detection methods |
| ES2704701T3 (es) | 2010-01-19 | 2019-03-19 | Verinata Health Inc | Nuevo protocolo de preparación de bibliotecas de secuenciación |
| 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 |
| EP2764458B1 (en) | 2011-10-06 | 2021-04-07 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP3243908B1 (en) | 2011-10-11 | 2019-01-02 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| ES2929923T3 (es) * | 2012-01-20 | 2022-12-02 | Sequenom Inc | Procesos de diagnóstico que condicionan las condiciones experimentales |
| EP4276194B1 (en) | 2012-05-21 | 2026-08-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| 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 |
| AU2014268377B2 (en) | 2013-05-24 | 2020-10-08 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| DK3011051T3 (en) * | 2013-06-21 | 2019-04-23 | Sequenom Inc | Method for non-invasive evaluation of genetic variations |
| US10964409B2 (en) | 2013-10-04 | 2021-03-30 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| 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 |
| US11783911B2 (en) * | 2014-07-30 | 2023-10-10 | Sequenom, Inc | Methods and processes for non-invasive assessment of genetic variations |
-
2015
- 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 JP JP2017518990A patent/JP6971845B2/ja active Active
- 2015-10-09 CA CA2964158A patent/CA2964158A1/en active Pending
- 2015-10-09 EP EP15785002.5A patent/EP3204512B1/en active Active
- 2015-10-09 AU AU2015330734A patent/AU2015330734B2/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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