JP2017524374A5 - - Google Patents
Download PDFInfo
- Publication number
- JP2017524374A5 JP2017524374A5 JP2017515036A JP2017515036A JP2017524374A5 JP 2017524374 A5 JP2017524374 A5 JP 2017524374A5 JP 2017515036 A JP2017515036 A JP 2017515036A JP 2017515036 A JP2017515036 A JP 2017515036A JP 2017524374 A5 JP2017524374 A5 JP 2017524374A5
- Authority
- JP
- Japan
- Prior art keywords
- sequence
- coverage
- bins
- interest
- test sample
- 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
Images
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462005877P | 2014-05-30 | 2014-05-30 | |
| US62/005,877 | 2014-05-30 | ||
| PCT/US2015/033403 WO2015184404A1 (en) | 2014-05-30 | 2015-05-29 | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2017524374A JP2017524374A (ja) | 2017-08-31 |
| JP2017524374A5 true JP2017524374A5 (https=) | 2018-07-05 |
| JP6659672B2 JP6659672B2 (ja) | 2020-03-04 |
Family
ID=53373661
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2017515036A Expired - Fee Related JP6659672B2 (ja) | 2014-05-30 | 2015-05-29 | 胎児染色体部分異数性およびコピー数変動の検出 |
Country Status (10)
| Country | Link |
|---|---|
| US (2) | US10318704B2 (https=) |
| EP (2) | EP3690061B1 (https=) |
| JP (1) | JP6659672B2 (https=) |
| KR (1) | KR102566176B1 (https=) |
| CN (1) | CN106795558B (https=) |
| AU (1) | AU2015266665C1 (https=) |
| BR (1) | BR112016027848A2 (https=) |
| CA (1) | CA2950596C (https=) |
| IL (1) | IL249095B2 (https=) |
| WO (1) | WO2015184404A1 (https=) |
Families Citing this family (47)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
| US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
| 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 |
| EP3690061B1 (en) | 2014-05-30 | 2025-01-01 | Verinata Health, Inc. | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations |
| EP4358097A1 (en) * | 2014-07-25 | 2024-04-24 | University of Washington | Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same |
| EP3502273B1 (en) * | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| US10364467B2 (en) * | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
| BE1023266B1 (nl) * | 2015-07-13 | 2017-01-17 | Cartagenia N.V. | Systeem en methodologie voor de analyse van genomische gegevens die zijn verkregen van een onderwerp |
| WO2017044609A1 (en) | 2015-09-08 | 2017-03-16 | Cold Spring Harbor Laboratory | Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides |
| SG11201805119QA (en) * | 2015-12-17 | 2018-07-30 | Guardant Health Inc | Methods to determine tumor gene copy number by analysis of cell-free dna |
| US10095831B2 (en) * | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| US20190050530A1 (en) * | 2016-02-09 | 2019-02-14 | Toma Biosciences, Inc. | Systems and Methods for Analyzing Nucleic Acids |
| US12071669B2 (en) * | 2016-02-12 | 2024-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| WO2018009723A1 (en) * | 2016-07-06 | 2018-01-11 | Guardant Health, Inc. | Methods for fragmentome profiling of cell-free nucleic acids |
| US20190287645A1 (en) * | 2016-07-06 | 2019-09-19 | Guardant Health, Inc. | Methods for fragmentome profiling of cell-free nucleic acids |
| JP6839268B2 (ja) * | 2016-09-22 | 2021-03-03 | イルミナ インコーポレイテッド | 体細胞コピー数多型検出 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| EP3635133A4 (en) * | 2017-06-09 | 2021-03-03 | Bellwether Bio, Inc. | DETERMINATION OF CANCER TYPE IN A PERSON BY PROBABILISTIC MODELING OF CIRCULATING NUCLEIC ACID FRAGMENT END POINTS |
| EP3635134A4 (en) * | 2017-06-09 | 2021-03-03 | Bellwether Bio, Inc. | DIAGNOSTIC CANCER OR OTHER PHYSIOLOGICAL CONDITIONS USING CIRCULATING NUCLEIC ACID FRAGMENT SENTINEL END POINTS |
| AU2018289410B2 (en) * | 2017-06-19 | 2024-06-13 | Invitae Corporation | Interpretation of genetic and genomic variants via an integrated computational and experimental deep mutational learning framework |
| US20200394491A1 (en) * | 2017-08-18 | 2020-12-17 | Koninklijke Philips N.V. | Methods for sequencing biomolecules |
| US12499972B2 (en) | 2017-09-01 | 2025-12-16 | Grail, Inc. | Identifying false positive variants using a significance model |
| US12020779B1 (en) * | 2017-09-06 | 2024-06-25 | Myriad Women's Health, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization with depth-scaled variance determination |
| CN108733982B (zh) * | 2017-09-26 | 2021-02-19 | 上海凡迪基因科技有限公司 | 孕妇nipt结果校正方法、装置及计算机可读存储介质、设备 |
| NZ759171A (en) | 2017-11-16 | 2022-05-27 | Illumina Inc | Systems and methods for determining microsatellite instability |
| US11728007B2 (en) * | 2017-11-30 | 2023-08-15 | Grail, Llc | Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly |
| US12590326B2 (en) | 2018-01-10 | 2026-03-31 | Guardant Health, Inc. | Methods for fragmentome profiling of cell-free nucleic acids |
| US12154661B2 (en) | 2018-03-22 | 2024-11-26 | The Regents Of The University Of Michigan | Method and apparatus for analysis of chromatin interaction data |
| WO2019209884A1 (en) * | 2018-04-23 | 2019-10-31 | Grail, Inc. | Methods and systems for screening for conditions |
| EP3795692A4 (en) * | 2018-05-07 | 2021-07-21 | GeneMind Biosciences Company Limited | METHOD, DEVICE AND SYSTEM FOR DETECTION OF CHROMOSOMAL ANEUPLOIDY |
| CN109030801B (zh) * | 2018-06-02 | 2021-08-20 | 宏葵生物(中国)股份有限公司 | 一种临床样本自动生化分析仪 |
| CN109117703B (zh) * | 2018-06-13 | 2022-03-22 | 中山大学中山眼科中心 | 一种基于细粒度识别的混杂细胞种类鉴定方法 |
| DE102018219483A1 (de) * | 2018-11-15 | 2020-05-20 | Robert Bosch Gmbh | Verfahren und Vorrichtung zur Analyse von biologischem Material |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| WO2020150258A1 (en) * | 2019-01-15 | 2020-07-23 | Luminist, Inc. | Methods and systems for detecting liver disease |
| US11455570B2 (en) * | 2019-01-15 | 2022-09-27 | Ebay Inc. | Machine learning-based infrastructure anomaly and incident detection using multi-dimensional machine metrics |
| US12205674B2 (en) | 2019-06-21 | 2025-01-21 | Coopersurgical, Inc. | System and method for determining genetic relationships between a sperm provider, oocyte provider, and the respective conceptus |
| AU2020369151A1 (en) * | 2019-10-22 | 2022-06-09 | Genembryomics Pty. Ltd. | Method for screening IVF embryos |
| WO2021097307A1 (en) * | 2019-11-14 | 2021-05-20 | Bio-Rad Laboratories, Inc. | Partition-based determination of target copy number for single cells by non-endpoint amplification |
| US12252745B2 (en) | 2021-09-02 | 2025-03-18 | Enumerix, Inc. | Detection and digital quantitation of multiple targets |
| WO2023092303A1 (en) * | 2021-11-23 | 2023-06-01 | Chromatintech Beijing Co, Ltd | Method for generating an enhanced hi-c matrix, non-transitory computer readable medium storing a program for generating an enhanced hi-c matrix, method for identifying a structural chromatin aberration in an enhanced hi-c matrix |
| US11935627B2 (en) * | 2021-12-29 | 2024-03-19 | Mujin, Inc. | System and method for text-based biological information processing with analysis refinement |
| US11947551B2 (en) * | 2022-05-27 | 2024-04-02 | Maplebear Inc. | Automated sampling of query results for training of a query engine |
| EP4634400A1 (en) * | 2022-12-14 | 2025-10-22 | Illumina, Inc. | Systems and methods for capture and enrichment of clustered beads on flow cell substrates |
| CN116825189A (zh) * | 2023-06-29 | 2023-09-29 | 赛纳生物科技(北京)有限公司 | 一种2+2测序的信号校正方法 |
| CN117331850B (zh) * | 2023-12-01 | 2024-03-15 | 云筑信息科技(成都)有限公司 | 一种将功能测试和接口自动化测试结合的测试方法 |
Family Cites Families (43)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| CA2615323A1 (en) | 2005-06-06 | 2007-12-21 | 454 Life Sciences Corporation | Paired end sequencing |
| US9163229B2 (en) | 2006-10-10 | 2015-10-20 | Trovagene, Inc. | Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media |
| US8262900B2 (en) | 2006-12-14 | 2012-09-11 | Life Technologies Corporation | Methods and apparatus for measuring analytes using large scale FET arrays |
| PL2557520T3 (pl) | 2007-07-23 | 2021-10-11 | The Chinese University Of Hong Kong | Określanie zaburzenia równowagi sekwencji kwasu nukleinowego |
| CN101889074A (zh) | 2007-10-04 | 2010-11-17 | 哈尔西恩莫尔丘勒公司 | 采用电子显微镜对核酸聚合物测序 |
| WO2009051842A2 (en) | 2007-10-18 | 2009-04-23 | The Johns Hopkins University | Detection of cancer by measuring genomic copy number and strand length in cell-free dna |
| 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 |
| CA2780016C (en) | 2009-11-06 | 2017-09-19 | The Chinese University Of Hong Kong | Size-based genomic analysis |
| WO2011091063A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Partition defined detection methods |
| US9260745B2 (en) * | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| EP2591433A4 (en) | 2010-07-06 | 2017-05-17 | Life Technologies Corporation | Systems and methods to detect copy number variation |
| US9029103B2 (en) | 2010-08-27 | 2015-05-12 | Illumina Cambridge Limited | Methods for sequencing polynucleotides |
| US8725422B2 (en) | 2010-10-13 | 2014-05-13 | Complete Genomics, Inc. | Methods for estimating genome-wide copy number variations |
| CN105243295B (zh) | 2010-11-30 | 2018-08-17 | 香港中文大学 | 与癌症相关的遗传或分子畸变的检测 |
| WO2014014498A1 (en) | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a fetal genome |
| US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| ES2605372T3 (es) | 2011-05-31 | 2017-03-14 | Berry Genomics Co., Ltd. | Un dispositivo para detectar el número de copias de cromosomas fetales o cromosomas de células tumorales |
| PL2561103T3 (pl) | 2011-06-29 | 2015-02-27 | Bgi Diagnosis Co Ltd | Nieinwazyjna detekcja anomalii genetycznych płodu |
| AU2011373694A1 (en) * | 2011-07-26 | 2013-05-02 | Verinata Health, Inc. | Method for determining the presence or absence of different aneuploidies in a sample |
| JP6073902B2 (ja) | 2011-10-06 | 2017-02-01 | セクエノム, インコーポレイテッド | 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 |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| ES2741966T3 (es) * | 2011-12-31 | 2020-02-12 | Bgi Genomics Co Ltd | Método para detectar una variación genética |
| CA2861856C (en) | 2012-01-20 | 2020-06-02 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
| CA2866324C (en) | 2012-03-13 | 2019-01-15 | The Chinese University Of Hong Kong | Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis |
| CN204440396U (zh) * | 2012-04-12 | 2015-07-01 | 维里纳塔健康公司 | 用于确定胎儿分数的试剂盒 |
| 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 |
| CN104781421B (zh) * | 2012-09-04 | 2020-06-05 | 夸登特健康公司 | 检测稀有突变和拷贝数变异的系统和方法 |
| US20140066317A1 (en) | 2012-09-04 | 2014-03-06 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| WO2014052855A1 (en) | 2012-09-27 | 2014-04-03 | Population Diagnostics, Inc. | Methods and compositions for screening and treating developmental disorders |
| CN114574581A (zh) | 2013-03-15 | 2022-06-03 | 夸登特健康公司 | 检测稀有突变和拷贝数变异的系统和方法 |
| WO2014204991A1 (en) | 2013-06-17 | 2014-12-24 | Verinata Health, Inc. | Method for determining copy number variations in sex chromosomes |
| ES3037160T3 (en) | 2013-06-21 | 2025-09-29 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| 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 |
| US10415083B2 (en) | 2013-10-28 | 2019-09-17 | The Translational Genomics Research Institute | Long insert-based whole genome sequencing |
| EP3690061B1 (en) | 2014-05-30 | 2025-01-01 | Verinata Health, Inc. | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations |
| EP3502273B1 (en) | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| US10368909B2 (en) | 2015-02-26 | 2019-08-06 | Titan Medical Inc. | Apparatus for providing access for a surgical procedure |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
-
2015
- 2015-05-29 EP EP20164915.9A patent/EP3690061B1/en active Active
- 2015-05-29 BR BR112016027848A patent/BR112016027848A2/pt not_active IP Right Cessation
- 2015-05-29 EP EP15728356.5A patent/EP3149199B1/en active Active
- 2015-05-29 JP JP2017515036A patent/JP6659672B2/ja not_active Expired - Fee Related
- 2015-05-29 WO PCT/US2015/033403 patent/WO2015184404A1/en not_active Ceased
- 2015-05-29 IL IL249095A patent/IL249095B2/en unknown
- 2015-05-29 CA CA2950596A patent/CA2950596C/en active Active
- 2015-05-29 US US14/726,183 patent/US10318704B2/en active Active
- 2015-05-29 KR KR1020167036900A patent/KR102566176B1/ko active Active
- 2015-05-29 CN CN201580041925.3A patent/CN106795558B/zh not_active Expired - Fee Related
- 2015-05-29 AU AU2015266665A patent/AU2015266665C1/en not_active Ceased
-
2019
- 2019-04-25 US US16/395,066 patent/US12217827B2/en active Active
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| JP2017524374A5 (https=) | ||
| EP3622524B1 (en) | Variant classifier based on deep neural networks | |
| JP2016539630A5 (https=) | ||
| CN107480470B (zh) | 基于贝叶斯与泊松分布检验的已知变异检出方法和装置 | |
| WO2019200338A1 (en) | Variant classifier based on deep neural networks | |
| Vohr et al. | A phylogenetic approach for haplotype analysis of sequence data from complex mitochondrial mixtures | |
| JP6066924B2 (ja) | Dna配列のデータ解析法 | |
| US20190287646A1 (en) | Identifying copy number aberrations | |
| CN103955630A (zh) | 制备参考数据库及对待测游离核酸样本进行目标区域序列比对的方法 | |
| CN105046105B (zh) | 染色体跨度的单体型图及其构建方法 | |
| Lawrence et al. | Assignment of position-specific error probability to primary DNA sequence data | |
| CN108268752A (zh) | 一种染色体异常检测装置 | |
| JP2022534634A5 (https=) | ||
| EP3977459A1 (en) | Limit of detection based quality control metric | |
| JP2021526857A5 (https=) | ||
| JP5403563B2 (ja) | 網羅的フラグメント解析における遺伝子同定方法および発現解析方法 | |
| Feng et al. | Inference of isoforms from short sequence reads | |
| RU2017104533A (ru) | Способ неинвазивного пренатального выявления эмбриональной хромосомной анеуплоидии по материнской крови | |
| US12073921B2 (en) | System for increasing the accuracy of non invasive prenatal diagnostics and liquid biopsy by observed loci bias correction at single base resolution | |
| AlEisa et al. | K‐Mer Spectrum‐Based Error Correction Algorithm for Next‐Generation Sequencing Data | |
| US20220101947A1 (en) | Method for determining fetal fraction in maternal sample | |
| CN117106870A (zh) | 胎儿浓度的确定方法及装置 | |
| JP2023547610A5 (https=) | ||
| Emma Huang et al. | iDArTs: increasing the value of genomic resources at no cost | |
| US11127485B2 (en) | Techniques for fine grained correction of count bias in massively parallel DNA sequencing |