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)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Evolutionary Biology (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (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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EP (1) EP3143537B1 (enExample)
JP (1) JP6618929B2 (enExample)
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WO (1) WO2015173222A1 (enExample)

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WO2018144782A1 (en) * 2017-02-01 2018-08-09 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
CN111868260B (zh) 2017-08-07 2025-02-21 约翰斯霍普金斯大学 用于评估和治疗癌症的方法和材料
KR102035615B1 (ko) * 2017-08-07 2019-10-23 연세대학교 산학협력단 유전자 패널에 기초한 염기서열의 변이 검출방법 및 이를 이용한 염기서열의 변이 검출 디바이스
WO2019071219A1 (en) * 2017-10-06 2019-04-11 Grail, Inc. SPECIFIC SITE NOISE MODEL FOR TARGETED SEQUENCING
MX2019014690A (es) 2017-10-16 2020-02-07 Illumina Inc Tecnicas basadas en aprendizaje profundo para el entrenamiento de redes neuronales convolucionales profundas.
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
CN118773295A (zh) * 2017-11-28 2024-10-15 格瑞尔有限责任公司 用于靶向测序的模型
KR102356323B1 (ko) * 2017-11-30 2022-01-26 일루미나, 인코포레이티드 서열 변이체 콜에 대한 검증방법 및 시스템
WO2019136376A1 (en) 2018-01-08 2019-07-11 Illumina, Inc. High-throughput sequencing with semiconductor-based detection
AU2019205496B2 (en) 2018-01-08 2021-08-19 Illumina, Inc. High-throughput sequencing with semiconductor-based detection
EP4592893A3 (en) 2018-01-15 2025-08-20 Illumina, Inc. Deep learning-based variant classifier
MX2020007904A (es) 2018-01-26 2020-09-07 Quantum Si Inc Llamado de pulso y base habilitado por maquina de aprendizaje para dispositivos de secuenciacion.
AU2019221869A1 (en) * 2018-02-16 2019-12-05 Illumina, Inc. Systems and methods for correlated error event mitigation for variant calling
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
EP3837690B1 (en) * 2018-08-13 2024-06-26 F. Hoffmann-La Roche AG Systems and methods for using neural networks for germline and somatic variant calling
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CN111073961A (zh) * 2019-12-20 2020-04-28 苏州赛美科基因科技有限公司 一种基因稀有突变的高通量检测方法
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EP3143537B1 (en) 2023-03-01
EP3143537A1 (en) 2017-03-22
JP6618929B2 (ja) 2019-12-11
JP2017520821A (ja) 2017-07-27
CN106462670A (zh) 2017-02-22
US20150324519A1 (en) 2015-11-12
US10216895B2 (en) 2019-02-26
WO2015173222A1 (en) 2015-11-19

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