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JP2017553050A 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法 Withdrawn JP2018502602A (ja)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 (https=) 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JP2017553050A Withdrawn JP2018502602A (ja) 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法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 (https=)
EP (1) EP3289502A4 (https=)
JP (1) JP2018502602A (https=)
CN (1) CN107111693A (https=)
AU (1) AU2015374344A1 (https=)
CA (1) CA2970345A1 (https=)
HK (1) HK1243204A1 (https=)
IL (1) IL252793A0 (https=)
WO (1) WO2016109364A1 (https=)

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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
WO2016040446A1 (en) * 2014-09-10 2016-03-17 Good Start Genetics, Inc. Methods for selectively suppressing non-target sequences
WO2016112073A1 (en) 2015-01-06 2016-07-14 Good Start Genetics, Inc. Screening for structural variants
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
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
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
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
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
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
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
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
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
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
JP7361774B2 (ja) * 2018-07-27 2023-10-16 ミリアド・ウィメンズ・ヘルス・インコーポレーテッド シーケンスリードの独立したアラインメントおよびペアリングによって高度に相同なシーケンスにおける遺伝的変異を検出するための方法
JP2022534071A (ja) * 2019-05-22 2022-07-27 ソウル ナショナル ユニバーシティ アールアンドディービー ファウンデーション Ｎｇｓデータを用いて遺伝型を予測する方法及び装置
MX2021008003A (es) * 2019-09-05 2021-08-18 Illumina Inc Metodos y sistemas para diagnosticar a partir de datos de secuenciacion de genoma completo.
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
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WO2016040446A1 (en) * 2014-09-10 2016-03-17 Good Start Genetics, Inc. Methods for selectively suppressing non-target sequences

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