JP2018501539A5 - - Google Patents

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Publication number
JP2018501539A5
JP2018501539A5 JP2017521153A JP2017521153A JP2018501539A5 JP 2018501539 A5 JP2018501539 A5 JP 2018501539A5 JP 2017521153 A JP2017521153 A JP 2017521153A JP 2017521153 A JP2017521153 A JP 2017521153A JP 2018501539 A5 JP2018501539 A5 JP 2018501539A5
Authority
JP
Japan
Prior art keywords
error table
generating
determining
diplotypes
possible haplotypes
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
JP2017521153A
Other languages
English (en)
Japanese (ja)
Other versions
JP2018501539A (ja
Filing date
Publication date
Application filed filed Critical
Priority claimed from PCT/US2015/055807 external-priority patent/WO2016061396A1/en
Publication of JP2018501539A publication Critical patent/JP2018501539A/ja
Publication of JP2018501539A5 publication Critical patent/JP2018501539A5/ja
Pending legal-status Critical Current

Links

JP2017521153A 2014-10-16 2015-10-15 バリアントコーラー Pending JP2018501539A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462064717P 2014-10-16 2014-10-16
US62/064,717 2014-10-16
PCT/US2015/055807 WO2016061396A1 (en) 2014-10-16 2015-10-15 Variant caller

Publications (2)

Publication Number Publication Date
JP2018501539A JP2018501539A (ja) 2018-01-18
JP2018501539A5 true JP2018501539A5 (enExample) 2018-11-08

Family

ID=55747365

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2017521153A Pending JP2018501539A (ja) 2014-10-16 2015-10-15 バリアントコーラー

Country Status (8)

Country Link
US (1) US20160140289A1 (enExample)
EP (1) EP3207369A4 (enExample)
JP (1) JP2018501539A (enExample)
CN (1) CN107076729A (enExample)
AU (1) AU2015332389A1 (enExample)
CA (1) CA2963425A1 (enExample)
IL (1) IL251742A0 (enExample)
WO (1) WO2016061396A1 (enExample)

Families Citing this family (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US20170270245A1 (en) 2016-01-11 2017-09-21 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing
CN109074426B (zh) 2016-02-12 2022-07-26 瑞泽恩制药公司 用于检测异常核型的方法和系统
EP4362030A3 (en) * 2016-06-07 2024-07-17 Illumina, Inc. Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing
US10600499B2 (en) 2016-07-13 2020-03-24 Seven Bridges Genomics Inc. Systems and methods for reconciling variants in sequence data relative to reference sequence data
CA3044231A1 (en) * 2016-11-16 2018-05-24 Illumina, Inc. Validation methods and systems for sequence variant calls
US11821027B2 (en) 2017-01-10 2023-11-21 Juno Therapeutics, Inc. Epigenetic analysis of cell therapy and related methods
US20190024161A1 (en) * 2017-07-21 2019-01-24 Helix OpCo, LLC Genomic services platform supporting multiple application providers
US11861491B2 (en) 2017-10-16 2024-01-02 Illumina, Inc. Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)
MX2019014690A (es) 2017-10-16 2020-02-07 Illumina Inc Tecnicas basadas en aprendizaje profundo para el entrenamiento de redes neuronales convolucionales profundas.
AU2019205496B2 (en) 2018-01-08 2021-08-19 Illumina, Inc. High-throughput sequencing with semiconductor-based detection
WO2019136376A1 (en) 2018-01-08 2019-07-11 Illumina, Inc. High-throughput sequencing with semiconductor-based detection
CN109949866B (zh) * 2018-06-22 2021-02-02 深圳市达仁基因科技有限公司 病原体操作组的检测方法、装置、计算机设备和存储介质
US11361194B2 (en) 2020-10-27 2022-06-14 Illumina, Inc. Systems and methods for per-cluster intensity correction and base calling
US11538555B1 (en) 2021-10-06 2022-12-27 Illumina, Inc. Protein structure-based protein language models
US12431218B2 (en) 2022-03-08 2025-09-30 Illumina, Inc. Multi-pass software-accelerated genomic read mapping engine

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2001253720A1 (en) * 2000-04-18 2001-10-30 Genaissance Pharmaceuticals, Inc. Method and system for determining haplotypes from a collection of polymorphisms
US20030211501A1 (en) * 2001-04-18 2003-11-13 Stephens J. Claiborne Method and system for determining haplotypes from a collection of polymorphisms
US20040265816A1 (en) * 2001-07-05 2004-12-30 Eiichi Tanaka Method of judging risk of side effects of remedys for rheumatoid arthritis (ra)
US20050209787A1 (en) * 2003-12-12 2005-09-22 Waggener Thomas B Sequencing data analysis
DK2511843T3 (en) * 2009-04-29 2017-03-27 Complete Genomics Inc METHOD AND SYSTEM FOR DETERMINING VARIATIONS IN A SAMPLE POLYNUCLEOTIDE SEQUENCE IN TERMS OF A REFERENCE POLYNUCLEOTIDE SEQUENCE
WO2011139797A2 (en) * 2010-04-27 2011-11-10 Spiral Genetics Inc. Method and system for analysis and error correction of biological sequences and inference of relationship for multiple samples
CA2835453A1 (en) * 2011-05-09 2012-11-15 Minerva Biotechnologies Corporation Genetically engineered growth factor variants
WO2013028739A1 (en) * 2011-08-25 2013-02-28 Complete Genomics Phasing of heterozygous loci to determine genomic haplotypes
CN103955629A (zh) * 2014-02-18 2014-07-30 吉林大学 基于模糊k均值的宏基因组片段聚类方法

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