CN106462670B - 超深度测序中的罕见变体召集 - Google Patents

超深度测序中的罕见变体召集 Download PDF

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CN106462670B
CN106462670B CN201580024749.2A CN201580024749A CN106462670B CN 106462670 B CN106462670 B CN 106462670B CN 201580024749 A CN201580024749 A CN 201580024749A CN 106462670 B CN106462670 B CN 106462670B
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variant
sample
samples
allele
sequence
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CN106462670A (zh
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W-m.刘
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F Hoffmann La Roche AG
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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/40—Population genetics; Linkage disequilibrium
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H20/00—ICT specially adapted for therapies or health-improving plans, e.g. for handling prescriptions, for steering therapy or for monitoring patient compliance

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  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
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  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
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  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN201580024749.2A 2014-05-12 2015-05-12 超深度测序中的罕见变体召集 Active CN106462670B (zh)

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US201461991820P 2014-05-12 2014-05-12
US61/991820 2014-05-12
PCT/EP2015/060442 WO2015173222A1 (en) 2014-05-12 2015-05-12 Rare variant calls in ultra-deep sequencing

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CN106462670B true CN106462670B (zh) 2020-04-10

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US (1) US10216895B2 (OSRAM)
EP (1) EP3143537B1 (OSRAM)
JP (1) JP6618929B2 (OSRAM)
CN (1) CN106462670B (OSRAM)
WO (1) WO2015173222A1 (OSRAM)

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US11978535B2 (en) * 2017-02-01 2024-05-07 The Translational Genomics Research Institute Methods of detecting somatic and germline variants in impure tumors
WO2018152267A1 (en) * 2017-02-14 2018-08-23 Bahram Ghaffarzadeh Kermani Reliable and secure detection techniques for processing genome data in next generation sequencing (ngs)
CN108660252B (zh) * 2017-04-01 2021-11-26 北京博尔晟科技发展有限公司 一种基于焦磷酸测序的人类免疫缺陷病毒耐药性分析方法
KR102035615B1 (ko) * 2017-08-07 2019-10-23 연세대학교 산학협력단 유전자 패널에 기초한 염기서열의 변이 검출방법 및 이를 이용한 염기서열의 변이 검출 디바이스
CN120400338A (zh) 2017-08-07 2025-08-01 约翰斯霍普金斯大学 用于评估和治疗癌症的方法和材料
WO2019071219A1 (en) * 2017-10-06 2019-04-11 Grail, Inc. SPECIFIC SITE NOISE MODEL FOR TARGETED SEQUENCING
NZ759818A (en) 2017-10-16 2022-04-29 Illumina Inc Semi-supervised learning for training an ensemble of deep convolutional neural networks
US11861491B2 (en) 2017-10-16 2024-01-02 Illumina, Inc. Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)
JP7067896B2 (ja) * 2017-10-27 2022-05-16 シスメックス株式会社 品質評価方法、品質評価装置、プログラム、および記録媒体
JP2021503922A (ja) * 2017-11-28 2021-02-15 グレイル， インコーポレイテッドＧｒａｉｌ， Ｉｎｃ． ターゲットシーケンシングのためのモデル
IL271235B2 (en) 2017-11-30 2024-12-01 Illumina Inc Validation methods and systems for detecting sequence variants
WO2019136376A1 (en) 2018-01-08 2019-07-11 Illumina, Inc. High-throughput sequencing with semiconductor-based detection
CA3279137A1 (en) 2018-01-08 2025-10-30 Illumina, Inc. Systems and devices for high-throughput sequencing with semiconductor-based detection
EP3619653B1 (en) 2018-01-15 2021-05-19 Illumina Inc. Deep learning-based variant classifier
JP2021511829A (ja) 2018-01-26 2021-05-13 クアンタム−エスアイ インコーポレイテッドＱｕａｎｔｕｍ−Ｓｉ Ｉｎｃｏｒｐｏｒａｔｅｄ シークエンシングデバイスに関する機械学習可能なパルス決定および塩基決定
CN120015114A (zh) * 2018-02-16 2025-05-16 伊鲁米那股份有限公司 用于变体识别的相关错误事件缓解的系统和方法
SE541799C2 (en) * 2018-04-11 2019-12-17 David Yudovich Determination of frequency distribution of nucleotide sequence variants
JP2019191952A (ja) * 2018-04-25 2019-10-31 特定非営利活動法人Ｎｏｒｔｈ Ｅａｓｔ Ｊａｐａｎ Ｓｔｕｄｙ Ｇｒｏｕｐ プログラム、情報処理方法および情報処理装置
CN113168886B (zh) * 2018-08-13 2025-01-21 豪夫迈·罗氏有限公司 用于使用神经网络进行种系和体细胞变体调用的系统和方法
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US10216895B2 (en) 2019-02-26
CN106462670A (zh) 2017-02-22
EP3143537B1 (en) 2023-03-01
JP2017520821A (ja) 2017-07-27
JP6618929B2 (ja) 2019-12-11
WO2015173222A1 (en) 2015-11-19
EP3143537A1 (en) 2017-03-22
US20150324519A1 (en) 2015-11-12

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