HK1199313A1 - Determining variants in a genome of a heterogeneous sample - Google Patents
Determining variants in a genome of a heterogeneous sampleInfo
- 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
Links
Classifications
-
- 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
- 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
- G16B30/20—Sequence assembly
-
- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
-
- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/10—Signal 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)
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)
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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)
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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 |
-
2012
- 2012-09-17 CN CN201280056506.3A patent/CN104160391A/zh active Pending
- 2012-09-17 WO PCT/US2012/055800 patent/WO2013040583A2/en active Application Filing
- 2012-09-17 US US13/621,716 patent/US20130110407A1/en not_active Abandoned
-
2014
- 2014-12-19 HK HK14112736.8A patent/HK1199313A1/xx unknown
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 |
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