JP2016526380A5 - - Google Patents
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- JP2016526380A5 JP2016526380A5 JP2016521519A JP2016521519A JP2016526380A5 JP 2016526380 A5 JP2016526380 A5 JP 2016526380A5 JP 2016521519 A JP2016521519 A JP 2016521519A JP 2016521519 A JP2016521519 A JP 2016521519A JP 2016526380 A5 JP2016526380 A5 JP 2016526380A5
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- JP
- Japan
- Prior art keywords
- chromosome
- computer system
- sequence
- test sample
- reference sequence
- 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.)
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- 210000002593 Y chromosome Anatomy 0.000 claims description 62
- 238000000034 method Methods 0.000 claims description 53
- 239000000523 sample Substances 0.000 claims description 46
- 150000007523 nucleic acids Chemical class 0.000 claims description 24
- 230000000873 masking effect Effects 0.000 claims description 20
- 108020004707 nucleic acids Proteins 0.000 claims description 20
- 102000039446 nucleic acids Human genes 0.000 claims description 20
- 238000011156 evaluation Methods 0.000 claims description 12
- 230000001605 fetal effect Effects 0.000 claims description 12
- 210000000349 chromosome Anatomy 0.000 claims description 10
- 230000008774 maternal effect Effects 0.000 claims description 8
- 108090000623 proteins and genes Proteins 0.000 claims description 6
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 4
- 230000002759 chromosomal effect Effects 0.000 claims description 4
- 238000004590 computer program Methods 0.000 claims description 4
- 238000009826 distribution Methods 0.000 claims description 4
- 239000013068 control sample Substances 0.000 claims description 3
- 230000015654 memory Effects 0.000 claims description 3
- 238000000638 solvent extraction Methods 0.000 claims description 3
- 208000036878 aneuploidy Diseases 0.000 claims description 2
- 231100001075 aneuploidy Toxicity 0.000 claims description 2
- 238000012163 sequencing technique Methods 0.000 claims description 2
- 241001465754 Metazoa Species 0.000 description 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201361836057P | 2013-06-17 | 2013-06-17 | |
| US61/836,057 | 2013-06-17 | ||
| PCT/US2014/042785 WO2014204991A1 (en) | 2013-06-17 | 2014-06-17 | Method for determining copy number variations in sex chromosomes |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2019081704A Division JP7021148B2 (ja) | 2013-06-17 | 2019-04-23 | 性染色体におけるコピー数変異を判定するための方法 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2016526380A JP2016526380A (ja) | 2016-09-05 |
| JP2016526380A5 true JP2016526380A5 (https=) | 2017-07-27 |
| JP6521956B2 JP6521956B2 (ja) | 2019-05-29 |
Family
ID=51205579
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016521519A Expired - Fee Related JP6521956B2 (ja) | 2013-06-17 | 2014-06-17 | 性染色体におけるコピー数変異を判定するための方法 |
| JP2019081704A Expired - Fee Related JP7021148B2 (ja) | 2013-06-17 | 2019-04-23 | 性染色体におけるコピー数変異を判定するための方法 |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2019081704A Expired - Fee Related JP7021148B2 (ja) | 2013-06-17 | 2019-04-23 | 性染色体におけるコピー数変異を判定するための方法 |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US20140371078A1 (https=) |
| EP (2) | EP3543354B1 (https=) |
| JP (2) | JP6521956B2 (https=) |
| CN (1) | CN105722994B (https=) |
| AU (1) | AU2014281635B2 (https=) |
| CA (1) | CA2915626A1 (https=) |
| IL (1) | IL242956B (https=) |
| WO (1) | WO2014204991A1 (https=) |
Families Citing this family (35)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| 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 |
| JP2018502602A (ja) * | 2014-12-29 | 2018-02-01 | カウンシル，インコーポレーテッド | 相同性の高い領域において遺伝子型を決定する方法 |
| ES2881977T3 (es) * | 2015-05-06 | 2021-11-30 | Seracare Life Sciences Inc | Preparaciones liposomales para cribado no invasivo prenatal o de cáncer |
| WO2017094941A1 (ko) * | 2015-12-04 | 2017-06-08 | 주식회사 녹십자지놈 | 핵산의 혼합물을 포함하는 샘플에서 복제수 변이를 결정하는 방법 |
| WO2017130205A1 (en) * | 2016-01-31 | 2017-08-03 | Hadasit Medical Research Services And Development Ltd. | Autosomal-identical pluripotent stem cell populations having non-identical sex chromosomal composition and uses thereof |
| US10095831B2 (en) * | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| KR102610098B1 (ko) * | 2016-07-06 | 2023-12-04 | 가던트 헬쓰, 인크. | 무세포 핵산의 프래그멘톰 프로파일링을 위한 방법 |
| BR112019002679A2 (pt) * | 2016-08-08 | 2019-05-14 | Karius, Inc. | redução de sinal de ácidos nucleicos contaminantes |
| MX2019003344A (es) * | 2016-09-22 | 2019-09-04 | Illumina Inc | Deteccion de variacion de numero de copias somaticas. |
| TWI603082B (zh) * | 2016-09-30 | 2017-10-21 | 有勁生物科技股份有限公司 | 非侵入式胎兒性徵異常檢測系統及其方法與非侵入式胎兒性徵檢測系統及其方法 |
| WO2018094183A1 (en) * | 2016-11-17 | 2018-05-24 | Seracare Life Sciences, Inc. | Methods for preparing dna reference material and controls |
| CN106845154B (zh) * | 2016-12-29 | 2022-04-08 | 浙江安诺优达生物科技有限公司 | 一种用于ffpe样本拷贝数变异检测的装置 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| CN107119145A (zh) * | 2017-07-13 | 2017-09-01 | 深圳瑞科生物科技有限公司 | 一种基于ddPCR定量检测ctDNA的方法 |
| CN109390039B (zh) * | 2017-08-11 | 2020-10-16 | 深圳华大基因股份有限公司 | 一种统计dna拷贝数信息的方法、装置及存储介质 |
| WO2019051812A1 (zh) * | 2017-09-15 | 2019-03-21 | 深圳华大智造科技有限公司 | 确定预定染色体保守区域的方法、确定样本基因组中是否存在拷贝数变异的方法、系统和计算机可读介质 |
| US11168356B2 (en) * | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
| NZ759171A (en) | 2017-11-16 | 2022-05-27 | Illumina Inc | Systems and methods for determining microsatellite instability |
| CN108427864B (zh) * | 2018-02-14 | 2019-01-29 | 南京世和基因生物技术有限公司 | 一种拷贝数变异的检测方法、装置以及计算机可读介质 |
| US12154661B2 (en) * | 2018-03-22 | 2024-11-26 | The Regents Of The University Of Michigan | Method and apparatus for analysis of chromatin interaction data |
| 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 |
| CN109136371B (zh) * | 2018-07-25 | 2019-11-01 | 南京世和基因生物技术有限公司 | 一种放疗疗效和毒性反应相关基因组合、检测探针库以及检测试剂盒 |
| KR102405245B1 (ko) * | 2018-07-27 | 2022-06-07 | 주식회사 지씨지놈 | 전장유전체 시퀀싱 기반의 염색체 이상 검출 방법 및 그 용도 |
| US11581062B2 (en) | 2018-12-10 | 2023-02-14 | Grail, Llc | Systems and methods for classifying patients with respect to multiple cancer classes |
| WO2020185790A1 (en) * | 2019-03-10 | 2020-09-17 | Ultima Genomics, Inc. | Methods and systems for sequence calling |
| CN111755066B (zh) * | 2019-03-27 | 2022-10-18 | 欧蒙医学诊断（中国）有限公司 | 一种拷贝数变异的检测方法和实施该方法的设备 |
| CN110534202A (zh) * | 2019-08-21 | 2019-12-03 | 江南大学附属医院（无锡市第四人民医院） | 一种针对Sox10在三阴性乳腺癌中的表达进行分析的系统 |
| CN116018646A (zh) | 2020-05-22 | 2023-04-25 | 阿克图尔公司 | 用于表征无细胞核酸片段的方法 |
| CN113409885B (zh) * | 2021-06-21 | 2022-09-20 | 天津金域医学检验实验室有限公司 | 一种自动化数据处理以及作图方法及系统 |
| CN114420208B (zh) * | 2022-02-28 | 2023-04-18 | 上海亿康医学检验所有限公司 | 一种用于鉴定核酸样本中cnv的方法和装置 |
| JP7331325B1 (ja) | 2022-08-30 | 2023-08-23 | 株式会社seeDNA | ２種以上の検査を実施可能な遺伝学的解析方法 |
| CN115273984B (zh) * | 2022-09-30 | 2022-11-29 | 北京诺禾致源科技股份有限公司 | 鉴定基因组串联重复区域的方法及装置 |
| CN115394359B (zh) * | 2022-10-27 | 2023-03-24 | 北京大学第三医院（北京大学第三临床医学院） | 一种通过转录组检测单细胞染色体拷贝数变异方法 |
Family Cites Families (15)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US7235358B2 (en) * | 2001-06-08 | 2007-06-26 | Expression Diagnostics, Inc. | Methods and compositions for diagnosing and monitoring transplant rejection |
| 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 |
| AU2008308457A1 (en) | 2007-10-04 | 2009-04-09 | Halcyon Molecular | Sequencing nucleic acid polymers with electron microscopy |
| GB0811500D0 (en) * | 2008-06-20 | 2008-07-30 | Univ Cardiff | Method of determining DNA copy number |
| WO2011050341A1 (en) * | 2009-10-22 | 2011-04-28 | National Center For Genome Resources | Methods and systems for medical sequencing analysis |
| ES2534758T3 (es) | 2010-01-19 | 2015-04-28 | Verinata Health, Inc. | Métodos de secuenciación en diagnósticos prenatales |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US20120010085A1 (en) | 2010-01-19 | 2012-01-12 | Rava Richard P | Methods for determining fraction of fetal nucleic acids in maternal samples |
| WO2012006291A2 (en) * | 2010-07-06 | 2012-01-12 | Life Technologies Corporation | Systems and methods to detect copy number variation |
| US20120034603A1 (en) * | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| AU2011358564B9 (en) * | 2011-02-09 | 2017-07-13 | Natera, Inc | Methods for non-invasive prenatal ploidy calling |
| JP6161607B2 (ja) * | 2011-07-26 | 2017-07-12 | ベリナタ ヘルス インコーポレイテッド | サンプルにおける異なる異数性の有無を決定する方法 |
| US8688388B2 (en) * | 2011-10-11 | 2014-04-01 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9538439B2 (en) * | 2013-05-10 | 2017-01-03 | Qualcomm Incorporated | Method and apparatus for estimating an achievable link throughput based on assistance information |
-
2014
- 2014-06-17 WO PCT/US2014/042785 patent/WO2014204991A1/en not_active Ceased
- 2014-06-17 EP EP19172284.2A patent/EP3543354B1/en not_active Not-in-force
- 2014-06-17 US US14/307,143 patent/US20140371078A1/en active Pending
- 2014-06-17 EP EP14739612.1A patent/EP3011052B1/en not_active Not-in-force
- 2014-06-17 AU AU2014281635A patent/AU2014281635B2/en not_active Ceased
- 2014-06-17 CN CN201480045591.2A patent/CN105722994B/zh not_active Expired - Fee Related
- 2014-06-17 CA CA2915626A patent/CA2915626A1/en active Pending
- 2014-06-17 JP JP2016521519A patent/JP6521956B2/ja not_active Expired - Fee Related
-
2015
- 2015-12-06 IL IL24295615A patent/IL242956B/en active IP Right Grant
-
2019
- 2019-04-23 JP JP2019081704A patent/JP7021148B2/ja not_active Expired - Fee Related
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