HK1199313A1 - Determining variants in a genome of a heterogeneous sample - Google Patents

Determining variants in a genome of a heterogeneous sample

Info

Publication number
HK1199313A1
HK1199313A1 HK14112736.8A HK14112736A HK1199313A1 HK 1199313 A1 HK1199313 A1 HK 1199313A1 HK 14112736 A HK14112736 A HK 14112736A HK 1199313 A1 HK1199313 A1 HK 1199313A1
Authority
HK
Hong Kong
Prior art keywords
genome
heterogeneous sample
determining variants
variants
determining
Prior art date
Application number
HK14112736.8A
Other languages
English (en)
Chinese (zh)
Inventor
Jonathan Baccash
Aaron Halpern
Chao Tian
Krishna Pant
Paolo Carnevali
Original Assignee
Complete Genomics Inc
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Complete Genomics Inc filed Critical Complete Genomics Inc
Publication of HK1199313A1 publication Critical patent/HK1199313A1/xx

Links

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20Sequence assembly
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/10Signal processing, e.g. from mass spectrometry [MS] or from PCR

Landscapes

  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Software Systems (AREA)
  • Databases & Information Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Signal Processing (AREA)
  • Molecular Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • General Physics & Mathematics (AREA)
  • Computational Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Pure & Applied Mathematics (AREA)
  • Mathematical Physics (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Operations Research (AREA)
  • Probability & Statistics with Applications (AREA)
  • Algebra (AREA)
  • General Engineering & Computer Science (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
HK14112736.8A 2011-09-16 2014-12-19 Determining variants in a genome of a heterogeneous sample HK1199313A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161535926P 2011-09-16 2011-09-16
US201261606306P 2012-03-02 2012-03-02
PCT/US2012/055800 WO2013040583A2 (en) 2011-09-16 2012-09-17 Determining variants in a genome of a heterogeneous sample

Publications (1)

Publication Number Publication Date
HK1199313A1 true HK1199313A1 (en) 2015-06-26

Family

ID=47884027

Family Applications (1)

Application Number Title Priority Date Filing Date
HK14112736.8A HK1199313A1 (en) 2011-09-16 2014-12-19 Determining variants in a genome of a heterogeneous sample

Country Status (4)

Country Link
US (1) US20130110407A1 (xx)
CN (1) CN104160391A (xx)
HK (1) HK1199313A1 (xx)
WO (1) WO2013040583A2 (xx)

Families Citing this family (43)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2994749A4 (en) 2013-01-17 2017-07-19 Edico Genome Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US10847251B2 (en) 2013-01-17 2020-11-24 Illumina, Inc. Genomic infrastructure for on-site or cloud-based DNA and RNA processing and analysis
US9679104B2 (en) 2013-01-17 2017-06-13 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US9792405B2 (en) 2013-01-17 2017-10-17 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US10068054B2 (en) 2013-01-17 2018-09-04 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US10691775B2 (en) 2013-01-17 2020-06-23 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
CN105143469B (zh) * 2013-05-24 2018-05-22 株式会社日立高新技术 核酸分析装置及使用其的核酸分析方法
JP2015035212A (ja) * 2013-07-29 2015-02-19 アジレント・テクノロジーズ・インクAgilent Technologies, Inc. ターゲットシークエンシングパネルから変異を見つける方法
EP3058095B1 (en) * 2013-10-15 2019-12-25 Regeneron Pharmaceuticals, Inc. High resolution allele identification
US20150199476A1 (en) * 2014-01-16 2015-07-16 Electronics And Telecommunications Research Institute Method of analyzing genome by genome analyzing device
US10394828B1 (en) 2014-04-25 2019-08-27 Emory University Methods, systems and computer readable storage media for generating quantifiable genomic information and results
US9858111B2 (en) * 2014-06-18 2018-01-02 Empire Technologies Development Llc Heterogeneous magnetic memory architecture
CN104462869B (zh) * 2014-11-28 2017-12-26 天津诺禾致源生物信息科技有限公司 检测体细胞单核苷酸突变的方法和装置
WO2016090585A1 (zh) * 2014-12-10 2016-06-16 深圳华大基因研究院 测序数据处理装置和方法
GB2552267B (en) * 2014-12-31 2020-06-10 Guardant Health Inc Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results
WO2016130578A1 (en) * 2015-02-09 2016-08-18 10X Genomics, Inc. Systems and methods for determining structural variation and phasing using variant call data
US20180163261A1 (en) * 2015-02-26 2018-06-14 Asuragen, Inc. Methods and apparatuses for improving mutation assessment accuracy
WO2016141516A1 (zh) * 2015-03-06 2016-09-15 深圳华大基因研究院 获取子代特异性序列、检测子代新突变的方法和装置
EP3329491A2 (en) 2015-03-23 2018-06-06 Edico Genome Corporation Method and system for genomic visualization
CN107851136B (zh) * 2015-07-29 2022-04-05 皇家飞利浦有限公司 用于对未知重要性的变体划分优先级顺序的系统和方法
CN105483244B (zh) * 2015-12-28 2019-10-22 武汉菲沙基因信息有限公司 一种基于超长基因组的变异检测方法及检测系统
US10068183B1 (en) 2017-02-23 2018-09-04 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on a quantum processing platform
US20170270245A1 (en) 2016-01-11 2017-09-21 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing
CN109074429B (zh) * 2016-04-20 2022-03-29 华为技术有限公司 基因组变异检测方法、装置及终端
CN105969856B (zh) * 2016-05-13 2019-11-12 万康源(天津)基因科技有限公司 一种单细胞外显子测序肿瘤体细胞突变检测方法
CN106022001B (zh) * 2016-05-13 2018-09-18 万康源(天津)基因科技有限公司 一种肿瘤突变位点筛选及互斥基因挖掘的系统
JP6653628B2 (ja) * 2016-06-16 2020-02-26 株式会社日立製作所 Dna配列解析装置、dna配列解析方法及びdna配列解析システム
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
JP7113838B2 (ja) * 2016-11-16 2022-08-05 イルミナ インコーポレイテッド 配列バリアントコールのための有効化方法およびシステム
US11861491B2 (en) 2017-10-16 2024-01-02 Illumina, Inc. Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)
IL299565B2 (en) 2017-10-16 2024-07-01 Illumina Inc Classifies pathogenic variants using a recurrent neural network
WO2019136388A1 (en) 2018-01-08 2019-07-11 Illumina, Inc. Systems and devices for high-throughput sequencing with semiconductor-based detection
EP3619521B1 (en) 2018-01-08 2021-07-07 Illumina Inc. High-throughput sequencing with semiconductor-based detection
CN108363906B (zh) * 2018-02-12 2021-12-28 中国农业科学院作物科学研究所 水稻多样本变异整合图谱OsMS-IVMap1.0的创建
KR20200121225A (ko) * 2018-02-16 2020-10-23 일루미나, 인코포레이티드 변이체 검출을 위한 상관 오류 이벤트 완화를 위한 시스템 및 방법
US20210319849A1 (en) * 2018-08-28 2021-10-14 Koninklijke Philips N.V. Method for assessing genome alignment basis
CN111383714B (zh) * 2018-12-29 2023-07-28 安诺优达基因科技(北京)有限公司 模拟目标疾病仿真测序文库的方法及其应用
JP2022550841A (ja) * 2019-10-02 2022-12-05 ミッション バイオ インコーポレイテッド 単一細胞分析を使用して改善されたバリアントコーラー
CN111798922B (zh) * 2020-07-29 2024-04-02 中国农业大学 基于重测序数据中多态性位点密度鉴定小麦育种的基因组选择利用区间的方法
US11361194B2 (en) 2020-10-27 2022-06-14 Illumina, Inc. Systems and methods for per-cluster intensity correction and base calling
CN112634991B (zh) * 2020-12-18 2022-07-19 长沙都正生物科技股份有限公司 基因分型方法、装置、电子设备及存储介质
US11538555B1 (en) 2021-10-06 2022-12-27 Illumina, Inc. Protein structure-based protein language models
US12043873B2 (en) 2022-03-21 2024-07-23 Billiontoone, Inc. Molecule counting of methylated cell-free DNA for treatment monitoring

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7024312B1 (en) * 1999-01-19 2006-04-04 Maxygen, Inc. Methods for making character strings, polynucleotides and polypeptides having desired characteristics
US20030211504A1 (en) * 2001-10-09 2003-11-13 Kim Fechtel Methods for identifying nucleic acid polymorphisms
US7617054B2 (en) * 2004-07-20 2009-11-10 Conexio 4 Pty Ltd Method and apparatus for analysing nucleic acid sequence
US7647188B2 (en) * 2004-09-15 2010-01-12 F. Hoffmann-La Roche Ag Systems and methods for processing nucleic acid chromatograms
US20100196898A1 (en) * 2007-05-24 2010-08-05 The Brigham & Women's Hospital, Inc. Disease-associated genetic variations and methods for obtaining and using same
KR101829565B1 (ko) * 2007-07-23 2018-03-29 더 차이니즈 유니버시티 오브 홍콩 핵산 서열 불균형의 결정
EP2511843B1 (en) * 2009-04-29 2016-12-21 Complete Genomics, Inc. Method and system for calling variations in a sample polynucleotide sequence with respect to a reference polynucleotide sequence
EP2366031B1 (en) * 2010-01-19 2015-01-21 Verinata Health, Inc Sequencing methods in prenatal diagnoses
US9260745B2 (en) * 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
KR102218512B1 (ko) * 2010-05-25 2021-02-19 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 Bambam:고처리율 서열분석 데이터의 병렬 비교 분석
EP2591433A4 (en) * 2010-07-06 2017-05-17 Life Technologies Corporation Systems and methods to detect copy number variation

Also Published As

Publication number Publication date
CN104160391A (zh) 2014-11-19
US20130110407A1 (en) 2013-05-02
WO2013040583A3 (en) 2014-05-22
WO2013040583A2 (en) 2013-03-21

Similar Documents

Publication Publication Date Title
HK1199313A1 (en) Determining variants in a genome of a heterogeneous sample
HK1256106A1 (zh) 抗α4β7抗體的給藥方案
GB2501203B (en) Detecting a trojan horse
GB201121242D0 (en) A sensor
EP2751929A4 (en) PROXIMITY SENSOR
GB201111097D0 (en) A sensor
EP2700030A4 (en) DETERMINATION OF BORE INTEGRITY
ZA201404463B (en) Detecting analytes
EP2774357A4 (en) DOUBLE MODE PROXIMITY SENSOR
EP2728302A4 (en) PROXIMITY SENSOR
GB2503112B (en) Partial discharge sensor
HK1203334A1 (en) Chopsticks
EP2707829A4 (en) LEVEL DETECTION
GB201117649D0 (en) Resonant biosensor
EP2768672A4 (en) FORM TOP SENSOR
GB201118026D0 (en) Biosensor
EP2708860A4 (en) KNOCK SENSOR
GB201122231D0 (en) Proximity sensor
IL232761A0 (en) jug
HK1183418A1 (zh) 筷子
EP2714531A4 (en) IMPROVEMENTS RELATING TO PLATFORMS
PL2695298T3 (pl) Czujnik zbliżeniowy
HRP20160703T1 (hr) Uređaj za pretakanje vina
GB2497738B (en) Re-usable cracker construction
GB2495479B (en) Reflux probe