JP2018500876A5 - - Google Patents
Download PDFInfo
- Publication number
- 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
- Authority
- JP
- Japan
- Prior art keywords
- item
- nucleotide sequence
- genomic region
- length
- items
- 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
- 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 (cg-RX-API-DMAC7.html) | 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 (cg-RX-API-DMAC7.html) |
| EP (2) | EP3730629A1 (cg-RX-API-DMAC7.html) |
| JP (3) | JP6971845B2 (cg-RX-API-DMAC7.html) |
| AU (3) | AU2015330734B2 (cg-RX-API-DMAC7.html) |
| CA (1) | CA2964158A1 (cg-RX-API-DMAC7.html) |
| WO (1) | WO2016057901A1 (cg-RX-API-DMAC7.html) |
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 |
| EP2946345B1 (en) | 2013-01-17 | 2024-04-03 | Personalis, Inc. | Methods and systems for genetic analysis |
| EP3736344A1 (en) | 2014-03-13 | 2020-11-11 | 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 |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | 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 |
| EP4235676A3 (en) | 2017-01-20 | 2023-10-18 | Sequenom, Inc. | Methods for non-invasive assessment of genetic alterations |
| US11929143B2 (en) | 2017-01-20 | 2024-03-12 | Sequenom, Inc | Methods for non-invasive assessment of copy number alterations |
| US11352662B2 (en) | 2017-01-20 | 2022-06-07 | Sequenom, Inc. | Sequence adapter manufacture and use |
| EP3574424A1 (en) | 2017-01-24 | 2019-12-04 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| WO2018170511A1 (en) | 2017-03-17 | 2018-09-20 | 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 |
| EP3814480A4 (en) * | 2018-05-24 | 2022-03-09 | The Trustees of Columbia University in the City of New York | PLATFORM FOR CAPTURE AND SEQUENCING BACTERIA AND METHODS OF DESIGN, CONSTRUCTION AND USE |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| WO2020180424A1 (en) | 2019-03-04 | 2020-09-10 | 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 |
| CN112823391B (zh) * | 2019-06-03 | 2024-07-05 | Illumina公司 | 基于检测限的质量控制度量 |
| US11403641B2 (en) * | 2019-06-28 | 2022-08-02 | Paypal, Inc. | Transactional probability analysis on radial time representation |
| CA3147432A1 (en) * | 2019-07-31 | 2021-02-04 | Somalogic, Inc. | Method, apparatus, and computer-readable medium for adaptive normalization of analyte levels |
| WO2021087491A1 (en) | 2019-10-31 | 2021-05-06 | 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 |
| 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 |
| US8034567B2 (en) | 2002-09-06 | 2011-10-11 | Trustees Of Boston University | Quantification of gene expression |
| WO2004050839A2 (en) | 2002-11-27 | 2004-06-17 | Sequenom, Inc. | Fragmentation-based methods and systems for sequence variation detection and discovery |
| EP1641809B2 (en) | 2003-07-05 | 2018-10-03 | 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 |
| CN101243191B (zh) | 2004-11-29 | 2014-04-16 | 塞昆纳姆股份有限公司 | 用于检测甲基化dna的手段和方法 |
| EP2029777B1 (en) | 2006-05-31 | 2017-03-08 | Sequenom, Inc. | Methods and compositions for the extraction of nucleic acid from a sample |
| CN101501251A (zh) | 2006-06-16 | 2009-08-05 | 塞昆纳姆股份有限公司 | 扩增、检测和定量样品中核酸的方法和组合物 |
| 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 |
| EP2276858A4 (en) | 2008-03-26 | 2011-10-05 | Sequenom Inc | RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION |
| DK2329021T3 (en) | 2008-09-16 | 2016-10-24 | Sequenom Inc | Methods and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample suitable 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 |
| CA2757493C (en) | 2009-04-03 | 2018-11-13 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
| AU2010343276B2 (en) | 2010-01-19 | 2015-05-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| US8700341B2 (en) * | 2010-01-19 | 2014-04-15 | Verinata Health, Inc. | Partition defined detection methods |
| SG185544A1 (en) | 2010-05-14 | 2012-12-28 | Fluidigm Corp | 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 |
| CA2851537C (en) | 2011-10-11 | 2020-12-29 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| JP6431769B2 (ja) | 2012-01-20 | 2018-11-28 | セクエノム， インコーポレイテッド | 実験条件を要因として含める診断プロセス |
| EP4276194A3 (en) | 2012-05-21 | 2024-03-06 | 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 |
| PL2981921T3 (pl) * | 2013-04-03 | 2023-05-08 | Sequenom, Inc. | Metody i procesy nieinwazyjnej oceny zmienności genetycznych |
| AU2014268377B2 (en) | 2013-05-24 | 2020-10-08 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10622094B2 (en) | 2013-06-21 | 2020-04-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| IL320112A (en) | 2013-10-04 | 2025-06-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| WO2015061359A1 (en) * | 2013-10-21 | 2015-04-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| EP3760739B1 (en) * | 2014-07-30 | 2025-09-03 | 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 CA CA2964158A patent/CA2964158A1/en active Pending
- 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 US US15/517,107 patent/US10892035B2/en active Active
- 2015-10-09 EP EP20172801.1A patent/EP3730629A1/en active Pending
- 2015-10-09 EP EP15785002.5A patent/EP3204512B1/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
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| JP2018500876A5 (cg-RX-API-DMAC7.html) | ||
| Dunning et al. | Statistical issues in the analysis of Illumina data | |
| US20240321389A1 (en) | Models for Targeted Sequencing | |
| US20240376527A1 (en) | Cell-free dna end characteristics | |
| US11854666B2 (en) | Noninvasive prenatal screening using dynamic iterative depth optimization | |
| IL319365A (en) | Methods and processes for assessing genetic variations | |
| IL295860A (en) | Methods and processes for non-invasive evaluation of genetic variations | |
| US20180330046A1 (en) | Methods for detecting copy-number variations in next-generation sequencing | |
| JP2016526879A5 (cg-RX-API-DMAC7.html) | ||
| JP2019522285A5 (cg-RX-API-DMAC7.html) | ||
| US20240387000A1 (en) | Base Coverage Normalization and Use Thereof in Detecting Copy Number Variation | |
| US20190287646A1 (en) | Identifying copy number aberrations | |
| CN106295246A (zh) | 找到与肿瘤相关的lncRNA并预测其功能 | |
| JP2017537380A5 (cg-RX-API-DMAC7.html) | ||
| US20160078169A1 (en) | Method of and apparatus for providing information on a genomic sequence based personal marker | |
| US20180300451A1 (en) | Techniques for fractional component fragment-size weighted correction of count and bias for massively parallel DNA sequencing | |
| US20130304387A1 (en) | Method and apparatus for analyzing genetic information of abnormal tissue | |
| US20140188397A1 (en) | Methods of acquiring genome size and error | |
| US12073921B2 (en) | System for increasing the accuracy of non invasive prenatal diagnostics and liquid biopsy by observed loci bias correction at single base resolution | |
| CN108733982B (zh) | 孕妇nipt结果校正方法、装置及计算机可读存储介质、设备 | |
| CN102154452A (zh) | 一种鉴定顺式和反式调控作用的方法和系统 | |
| CN116206680A (zh) | 一种检测串联重复区域的方法、装置、设备及存储介质 | |
| TWI694464B (zh) | 複製數計測裝置、複製數計測程式產品、複製數計測方法以及基因集合 | |
| US11127485B2 (en) | Techniques for fine grained correction of count bias in massively parallel DNA sequencing | |
| JP2009069911A (ja) | 遺伝子関連解析装置及び遺伝子関連解析プログラム |