JP2016539630A5 - - Google Patents
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- JP2016539630A5 JP2016539630A5 JP2016525007A JP2016525007A JP2016539630A5 JP 2016539630 A5 JP2016539630 A5 JP 2016539630A5 JP 2016525007 A JP2016525007 A JP 2016525007A JP 2016525007 A JP2016525007 A JP 2016525007A JP 2016539630 A5 JP2016539630 A5 JP 2016539630A5
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- 238000012360 testing method Methods 0.000 claims description 114
- 238000000034 method Methods 0.000 claims description 110
- 238000012549 training Methods 0.000 claims description 99
- 150000007523 nucleic acids Chemical group 0.000 claims description 94
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 63
- 238000012937 correction Methods 0.000 claims description 63
- 108020004707 nucleic acids Proteins 0.000 claims description 31
- 102000039446 nucleic acids Human genes 0.000 claims description 31
- 230000000873 masking effect Effects 0.000 claims description 11
- 210000000349 chromosome Anatomy 0.000 claims description 9
- 108020004414 DNA Proteins 0.000 claims description 8
- 230000001605 fetal effect Effects 0.000 claims description 8
- 210000004027 cell Anatomy 0.000 claims description 6
- 238000007620 mathematical function Methods 0.000 claims description 6
- 238000011156 evaluation Methods 0.000 claims description 5
- 238000004590 computer program Methods 0.000 claims description 4
- 238000013507 mapping Methods 0.000 claims description 4
- 230000008774 maternal effect Effects 0.000 claims description 4
- 238000003860 storage Methods 0.000 claims description 4
- 102000053602 DNA Human genes 0.000 claims description 3
- 238000012417 linear regression Methods 0.000 claims description 2
- 239000000203 mixture Substances 0.000 claims description 2
- 238000007689 inspection Methods 0.000 claims 1
- 230000014759 maintenance of location Effects 0.000 claims 1
- 108091093037 Peptide nucleic acid Proteins 0.000 description 2
- 239000003550 marker Substances 0.000 description 2
- 238000012163 sequencing technique Methods 0.000 description 2
- 108091093094 Glycol nucleic acid Proteins 0.000 description 1
- 241001465754 Metazoa Species 0.000 description 1
- 108091046915 Threose nucleic acid Proteins 0.000 description 1
- 208000036878 aneuploidy Diseases 0.000 description 1
- 231100001075 aneuploidy Toxicity 0.000 description 1
- 239000008280 blood Substances 0.000 description 1
- 210000004369 blood Anatomy 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- 210000003754 fetus Anatomy 0.000 description 1
- -1 morpholino nucleic acid Chemical class 0.000 description 1
- 229920002477 rna polymer Polymers 0.000 description 1
- 210000003296 saliva Anatomy 0.000 description 1
- 210000002700 urine Anatomy 0.000 description 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201361893830P | 2013-10-21 | 2013-10-21 | |
| US61/893,830 | 2013-10-21 | ||
| PCT/US2014/061635 WO2015061359A1 (en) | 2013-10-21 | 2014-10-21 | Method for improving the sensitivity of detection in determining copy number variations |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2016539630A JP2016539630A (ja) | 2016-12-22 |
| JP2016539630A5 true JP2016539630A5 (https=) | 2017-11-24 |
| JP6534191B2 JP6534191B2 (ja) | 2019-06-26 |
Family
ID=51894216
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016525007A Expired - Fee Related JP6534191B2 (ja) | 2013-10-21 | 2014-10-21 | 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 |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US10741269B2 (https=) |
| EP (2) | EP3061021B1 (https=) |
| JP (1) | JP6534191B2 (https=) |
| KR (2) | KR102429186B1 (https=) |
| CN (1) | CN105830077B (https=) |
| AU (2) | AU2014340239B2 (https=) |
| CA (1) | CA2928185C (https=) |
| IL (1) | IL245177B (https=) |
| WO (1) | WO2015061359A1 (https=) |
Families Citing this family (56)
| Publication number | Priority date | Publication date | Assignee | Title |
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| HK1206055A1 (en) | 2012-03-02 | 2015-12-31 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
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| 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 |
| HK1216655A1 (zh) | 2013-03-13 | 2016-11-25 | Sequenom, Inc. | 用於dna甲基化分析的引物 |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
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| ES2741400T3 (es) | 2014-07-18 | 2020-02-10 | Univ Hong Kong Chinese | Análisis de patrones de metilación de tejidos en mezcla de ADN |
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| BE1023267B1 (nl) * | 2015-07-13 | 2017-01-17 | Cartagenia N.V. | Werkwijze voor het analyseren van kopienummervariatie bij de detectie van kanker |
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| EP3518974A4 (en) * | 2016-09-29 | 2020-05-27 | Myriad Women's Health, Inc. | NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION |
| WO2018099418A1 (en) | 2016-11-30 | 2018-06-07 | The Chinese University Of Hong Kong | Analysis of cell-free dna in urine and other samples |
| EP3559841B1 (en) * | 2016-12-22 | 2025-08-06 | Grail, Inc. | Base coverage normalization and use thereof in detecting copy number variation |
| CA3046007A1 (en) | 2016-12-22 | 2018-06-28 | Guardant Health, Inc. | Methods and systems for analyzing nucleic acid molecules |
| CN116612818A (zh) * | 2017-01-06 | 2023-08-18 | 伊鲁米那股份有限公司 | 移相校正 |
| US11929143B2 (en) | 2017-01-20 | 2024-03-12 | Sequenom, Inc | Methods for non-invasive assessment of copy number alterations |
| KR101957909B1 (ko) | 2017-02-24 | 2019-03-15 | 에스디지노믹스 주식회사 | 복제수 변이 후보 우선순위 연산 방법 |
| WO2018170443A1 (en) * | 2017-03-16 | 2018-09-20 | Counsyl, Inc. | Multi-dimensional sample-dependent and batch-dependent quality control |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| 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 |
| WO2019178289A1 (en) * | 2018-03-13 | 2019-09-19 | Grail, Inc. | Method and system for selecting, managing, and analyzing data of high dimensionality |
| CN119753091A (zh) | 2018-04-02 | 2025-04-04 | 格里尔公司 | 用于扩增与癌症相关联的cfDNA分子的化验板 |
| CN108647492B (zh) * | 2018-05-02 | 2019-04-16 | 中国人民解放军军事科学院军事医学研究院 | 一种染色质拓扑相关结构域的表征方法及装置 |
| US10801064B2 (en) | 2018-05-31 | 2020-10-13 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US11814750B2 (en) | 2018-05-31 | 2023-11-14 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| CN112888459B (zh) | 2018-06-01 | 2023-05-23 | 格里尔公司 | 卷积神经网络系统及数据分类方法 |
| IL281741B2 (en) | 2018-09-27 | 2026-04-01 | Grail Inc | Methylation markers and a targeted methylation detection panel |
| GB2577548B (en) | 2018-09-28 | 2022-10-26 | Siemens Healthcare Gmbh | Method for determining a subject's genetic copy number value |
| KR102215151B1 (ko) | 2018-09-28 | 2021-02-10 | 한양대학교 산학협력단 | 다중 참조 유전체에 기반한 유전체 구조변이 검출 방법 및 구조변이 검출 장치 |
| CN111028888B (zh) * | 2018-10-09 | 2024-07-16 | 北京贝瑞和康生物技术有限公司 | 一种全基因组拷贝数变异的检测方法及其应用 |
| UY38479A (es) | 2018-11-19 | 2020-06-30 | Sist Genomicos S L | Método y producto informático de análisis de adn fetal por secuenciación masiva |
| CN109754845B (zh) * | 2018-12-29 | 2020-02-28 | 浙江安诺优达生物科技有限公司 | 模拟目标疾病仿真测序文库的方法及其应用 |
| CN109887546B (zh) * | 2019-01-15 | 2019-12-27 | 明码（上海）生物科技有限公司 | 基于二代测序的单基因或多基因拷贝数检测系统及方法 |
| CN112823391B (zh) * | 2019-06-03 | 2024-07-05 | Illumina公司 | 基于检测限的质量控制度量 |
| EP4035161A1 (en) | 2019-09-23 | 2022-08-03 | Grail, LLC | Systems and methods for diagnosing a disease condition using on-target and off-target sequencing data |
| US11891653B2 (en) | 2019-09-30 | 2024-02-06 | Guardant Health, Inc. | Compositions and methods for analyzing cell-free DNA in methylation partitioning assays |
| EP4055610A4 (en) | 2019-11-05 | 2023-11-29 | Personalis, Inc. | ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES |
| US11211147B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing |
| US11475981B2 (en) | 2020-02-18 | 2022-10-18 | Tempus Labs, Inc. | Methods and systems for dynamic variant thresholding in a liquid biopsy assay |
| US11211144B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Methods and systems for refining copy number variation in a liquid biopsy assay |
| US12234518B2 (en) | 2020-10-23 | 2025-02-25 | Guardant Health, Inc. | Compositions and methods for analyzing DNA using partitioning and base conversion |
| EP4413580A4 (en) | 2021-10-05 | 2025-08-13 | Personalis Inc | PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING |
| CN121368638A (zh) * | 2023-06-30 | 2026-01-20 | 因美纳有限公司 | 在测序运行期间修改测序循环或成像以满足定制的覆盖度估计 |
| CN117524301B (zh) * | 2024-01-04 | 2024-04-09 | 北京泛生子基因科技有限公司 | 一种拷贝数变异的检测方法、装置以及计算机可读介质 |
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| US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| US7601499B2 (en) | 2005-06-06 | 2009-10-13 | 454 Life Sciences Corporation | Paired end sequencing |
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| US8262900B2 (en) | 2006-12-14 | 2012-09-11 | Life Technologies Corporation | Methods and apparatus for measuring analytes using large scale FET arrays |
| LT2557517T (lt) * | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| AU2008308457A1 (en) | 2007-10-04 | 2009-04-09 | Halcyon Molecular | Sequencing nucleic acid polymers with electron microscopy |
| 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 |
| HUE031848T2 (en) | 2008-09-20 | 2017-08-28 | Univ Leland Stanford Junior | Non-invasive diagnosis of fetal aneuploidy by sequencing |
| EA034241B1 (ru) * | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
| EP2526415B1 (en) | 2010-01-19 | 2017-05-03 | Verinata Health, Inc | Partition defined detection methods |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| WO2012006291A2 (en) | 2010-07-06 | 2012-01-12 | Life Technologies Corporation | Systems and methods to detect copy number variation |
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| MX349568B (es) * | 2010-11-30 | 2017-08-03 | Univ Hong Kong Chinese | Deteccion de aberraciones geneticas o moleculares asociadas con el cancer. |
| AU2011365507A1 (en) * | 2011-04-14 | 2013-05-02 | Verinata Health, Inc. | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
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| JP5926795B2 (ja) | 2011-05-31 | 2016-05-25 | ベリー ジェノミクス カンパニー リミテッドＢｅｒｒｙ Ｇｅｎｏｍｉｃｓ Ｃｏ．， Ｌｔｄ． | 胎芽又は腫瘍染色体のコピー数を検出するシステム及び装置 |
| DK2561103T3 (da) | 2011-06-29 | 2014-10-20 | Bgi Diagnosis Co Ltd | Ikke-invasiv påvisning af føtal genetisk anomali |
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| ES2886508T3 (es) | 2011-10-06 | 2021-12-20 | Sequenom Inc | Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas |
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| JP6411995B2 (ja) | 2012-03-13 | 2018-10-24 | ザ チャイニーズ ユニバーシティー オブ ホンコン | 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法 |
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| HUE042654T2 (hu) | 2013-06-21 | 2019-07-29 | Sequenom Inc | Eljárás genetikai variációk nem-invazív megállapítására |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| US10415083B2 (en) | 2013-10-28 | 2019-09-17 | The Translational Genomics Research Institute | Long insert-based whole genome sequencing |
| CA2950596C (en) | 2014-05-30 | 2023-10-31 | Verinata Health, Inc. | Detecting 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 |
-
2014
- 2014-10-21 KR KR1020227007542A patent/KR102429186B1/ko active Active
- 2014-10-21 US US15/031,246 patent/US10741269B2/en active Active
- 2014-10-21 EP EP14796611.3A patent/EP3061021B1/en active Active
- 2014-10-21 CA CA2928185A patent/CA2928185C/en active Active
- 2014-10-21 EP EP23168928.2A patent/EP4227947A1/en not_active Withdrawn
- 2014-10-21 KR KR1020167013043A patent/KR102373647B1/ko not_active Expired - Fee Related
- 2014-10-21 AU AU2014340239A patent/AU2014340239B2/en not_active Ceased
- 2014-10-21 CN CN201480070158.4A patent/CN105830077B/zh not_active Expired - Fee Related
- 2014-10-21 JP JP2016525007A patent/JP6534191B2/ja not_active Expired - Fee Related
- 2014-10-21 WO PCT/US2014/061635 patent/WO2015061359A1/en not_active Ceased
-
2016
- 2016-04-18 IL IL24517716A patent/IL245177B/en active IP Right Grant
-
2020
- 2020-01-31 AU AU2020200728A patent/AU2020200728C1/en not_active Ceased
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