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JP2017553050A 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法 Withdrawn JP2018502602A (ja)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JP2017553050A Withdrawn JP2018502602A (ja) 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法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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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
EP4095261B1 (en) 2015-01-06 2025-05-28 Molecular Loop Biosciences, Inc. Screening for structural variants
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
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
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
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
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
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
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
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
CA3125356A1 (en) * 2019-09-05 2021-03-11 Illumina, Inc. Methods and systems for diagnosing from whole genome sequencing data
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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US11408024B2 (en) * 2014-09-10 2022-08-09 Molecular Loop Biosciences, Inc. Methods for selectively suppressing non-target sequences

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