JP2018502602A5 - - Google Patents

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Publication number
JP2018502602A5
JP2018502602A5 JP2017553050A JP2017553050A JP2018502602A5 JP 2018502602 A5 JP2018502602 A5 JP 2018502602A5 JP 2017553050 A JP2017553050 A JP 2017553050A JP 2017553050 A JP2017553050 A JP 2017553050A JP 2018502602 A5 JP2018502602 A5 JP 2018502602A5
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JP
Japan
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site
test site
hybrid capture
ngs
target
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JP2017553050A
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Japanese (ja)
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JP2018502602A (ja
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Priority claimed from PCT/US2015/067547 external-priority patent/WO2016109364A1/en
Publication of JP2018502602A publication Critical patent/JP2018502602A/ja
Publication of JP2018502602A5 publication Critical patent/JP2018502602A5/ja
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JP2017553050A 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法 Withdrawn JP2018502602A (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201462097139P 2014-12-29 2014-12-29
US62/097,139 2014-12-29
US201562234012P 2015-09-28 2015-09-28
US62/234,012 2015-09-28
PCT/US2015/067547 WO2016109364A1 (en) 2014-12-29 2015-12-28 Method for determining genotypes in regions of high homology

Publications (2)

Publication Number Publication Date
JP2018502602A JP2018502602A (ja) 2018-02-01
JP2018502602A5 true JP2018502602A5 (enExample) 2018-09-06

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JP2017553050A Withdrawn JP2018502602A (ja) 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法

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US (2) US20160188793A1 (enExample)
EP (1) EP3289502A4 (enExample)
JP (1) JP2018502602A (enExample)
CN (1) CN107111693A (enExample)
AU (1) AU2015374344A1 (enExample)
CA (1) CA2970345A1 (enExample)
HK (1) HK1243204A1 (enExample)
IL (1) IL252793A0 (enExample)
WO (1) WO2016109364A1 (enExample)

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US9163281B2 (en) 2010-12-23 2015-10-20 Good Start Genetics, Inc. Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction
US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
US11408024B2 (en) * 2014-09-10 2022-08-09 Molecular Loop Biosciences, Inc. Methods for selectively suppressing non-target sequences
EP3271480B8 (en) 2015-01-06 2022-09-28 Molecular Loop Biosciences, Inc. Screening for structural variants
CN106529209A (zh) * 2016-11-04 2017-03-22 成都鑫云解码科技有限公司 免疫系统对应的基因的突变位点的获取方法及装置
CN106407746A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 呼吸系统对应的基因的突变位点的获取方法及装置
CN106407748A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 内分泌与代谢系统对应的基因突变位点的获取方法及装置
CN106407745A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 皮肤对应的基因的突变位点的获取方法及装置
CN106407744A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 饮食与健康对应的基因的突变位点的获取方法及装置
CN106503490A (zh) * 2016-11-04 2017-03-15 成都鑫云解码科技有限公司 泌尿与生殖系统对应的基因的突变位点的获取方法及装置
CN106503489A (zh) * 2016-11-04 2017-03-15 成都鑫云解码科技有限公司 心血管系统对应的基因的突变位点的获取方法及装置
CN106407747A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 肿瘤对应的基因的突变位点的获取方法及装置
CN106503488A (zh) * 2016-11-04 2017-03-15 成都鑫云解码科技有限公司 消化系统对应的基因的突变位点的获取方法及装置
US11993811B2 (en) * 2017-01-31 2024-05-28 Myriad Women's Health, Inc. Systems and methods for identifying and quantifying gene copy number variations
US10894978B2 (en) 2017-12-19 2021-01-19 Bioo Scientific Corporation Genetic test for detecting congenital adrenal hyperplasia
CN108251517A (zh) * 2017-12-29 2018-07-06 武汉艾德士生物科技有限公司 一种分析体系内相似序列相对数量的方法
WO2019182956A1 (en) * 2018-03-22 2019-09-26 Myriad Women's Health, Inc. Variant calling using machine learning
CN110699436B (zh) * 2018-07-10 2023-07-21 天津华大医学检验所有限公司 确定待测样本的smn1基因是否存在七号外显子缺失的方法和系统
EP3830828A4 (en) * 2018-07-27 2022-05-04 Myriad Women's Health, Inc. METHODS FOR DETECTING GENETIC VARIATIONS IN HIGHLY HOMOLOGOUS SEQUENCES BY INDEPENDENT ALIGNMENT AND PAIRING OF SEQUENCE READS
US20220223228A1 (en) * 2019-05-22 2022-07-14 Seoul National University R&Db Foundation Method and device for predicting genotype using ngs data
JP7674246B2 (ja) * 2019-09-05 2025-05-09 イルミナ インコーポレイテッド 全ゲノム配列決定データから診断するための方法及びシステム
US20210074381A1 (en) 2019-09-11 2021-03-11 Enancio Method for the compression of genome sequence data
CN117396967A (zh) * 2021-06-07 2024-01-12 因美纳有限公司 用于鉴定重组变体的方法和系统
CN113724791B (zh) * 2021-09-09 2024-03-12 天津华大医学检验所有限公司 Cyp21a2基因ngs数据分析的方法、装置及应用
CN113564247B (zh) * 2021-09-24 2022-01-28 北京贝瑞和康生物技术有限公司 同时检测先天性肾上腺皮质增生症相关9个基因多种突变的引物组和试剂盒
CN118715566A (zh) 2022-03-08 2024-09-27 因美纳有限公司 多通道软件加速基因组读段映射引擎
JP2025526252A (ja) * 2022-07-07 2025-08-13 イルミナ インコーポレイテッド 組換え事象を検出するための方法及びシステム

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CN101067156A (zh) * 2007-05-18 2007-11-07 中国人民解放军第三军医大学第一附属医院 一种基于选择性探针的多重pcr方法及其应用
WO2010104608A2 (en) * 2009-03-13 2010-09-16 Life Technologies Corporation Computer implemented method for indexing reference genome
CN102597272A (zh) * 2009-11-12 2012-07-18 艾索特里克斯遗传实验室有限责任公司 基因座的拷贝数分析
US20120215463A1 (en) * 2011-02-23 2012-08-23 The Mitre Corporation Rapid Genomic Sequence Homology Assessment Scheme Based on Combinatorial-Analytic Concepts
WO2012125848A2 (en) * 2011-03-16 2012-09-20 Baylor College Of Medicine A method for comprehensive sequence analysis using deep sequencing technology
US20130184999A1 (en) * 2012-01-05 2013-07-18 Yan Ding Systems and methods for cancer-specific drug targets and biomarkers discovery
CN102952877B (zh) * 2012-08-06 2014-09-24 深圳华大基因研究院 检测α珠蛋白基因拷贝数的方法和系统
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CN105722994B (zh) * 2013-06-17 2020-12-18 维里纳塔健康公司 用于确定性染色体中的拷贝数变异的方法
US10851414B2 (en) * 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
WO2015058086A1 (en) * 2013-10-18 2015-04-23 Good Start Genetics, Inc. Methods for copy number determination
US11408024B2 (en) * 2014-09-10 2022-08-09 Molecular Loop Biosciences, Inc. Methods for selectively suppressing non-target sequences

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