JP6420543B2 - ゲノムデータ処理方法 - Google Patents

ゲノムデータ処理方法 Download PDF

Info

Publication number
JP6420543B2
JP6420543B2 JP2013549922A JP2013549922A JP6420543B2 JP 6420543 B2 JP6420543 B2 JP 6420543B2 JP 2013549922 A JP2013549922 A JP 2013549922A JP 2013549922 A JP2013549922 A JP 2013549922A JP 6420543 B2 JP6420543 B2 JP 6420543B2
Authority
JP
Japan
Prior art keywords
information
genomic
disease
genomic sequence
sequence
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.)
Expired - Fee Related
Application number
JP2013549922A
Other languages
English (en)
Japanese (ja)
Other versions
JP2014508994A (ja
JP2014508994A5 (https=
Inventor
ヴァルダハン マッカパティ,ヴィシュヌ
ヴァルダハン マッカパティ,ヴィシュヌ
ディミトロヴァ,ネヴェンカ
シン,ランディープ
クマル ジャグラン,スニル
クマル ジャグラン,スニル
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Koninklijke Philips NV
Original Assignee
Koninklijke Philips NV
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 Koninklijke Philips NV filed Critical Koninklijke Philips NV
Publication of JP2014508994A publication Critical patent/JP2014508994A/ja
Publication of JP2014508994A5 publication Critical patent/JP2014508994A5/ja
Application granted granted Critical
Publication of JP6420543B2 publication Critical patent/JP6420543B2/ja
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/40Population genetics; Linkage disequilibrium

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2013549922A 2011-01-19 2012-01-19 ゲノムデータ処理方法 Expired - Fee Related JP6420543B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161434017P 2011-01-19 2011-01-19
US61/434,017 2011-01-19
PCT/IB2012/050255 WO2012098515A1 (en) 2011-01-19 2012-01-19 Method for processing genomic data

Publications (3)

Publication Number Publication Date
JP2014508994A JP2014508994A (ja) 2014-04-10
JP2014508994A5 JP2014508994A5 (https=) 2015-08-20
JP6420543B2 true JP6420543B2 (ja) 2018-11-07

Family

ID=45607311

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2013549922A Expired - Fee Related JP6420543B2 (ja) 2011-01-19 2012-01-19 ゲノムデータ処理方法

Country Status (7)

Country Link
US (1) US20140229495A1 (https=)
EP (1) EP2666115A1 (https=)
JP (1) JP6420543B2 (https=)
CN (2) CN111192634A (https=)
BR (1) BR112013018139A8 (https=)
RU (1) RU2013138422A (https=)
WO (1) WO2012098515A1 (https=)

Families Citing this family (62)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9773091B2 (en) 2011-10-31 2017-09-26 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
CN102841988B (zh) * 2012-07-28 2015-10-21 盛司潼 一种对核酸序列信息进行匹配的系统和方法
US9418203B2 (en) 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
WO2014149972A1 (en) 2013-03-15 2014-09-25 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US11342048B2 (en) 2013-03-15 2022-05-24 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US9898575B2 (en) 2013-08-21 2018-02-20 Seven Bridges Genomics Inc. Methods and systems for aligning sequences
US9116866B2 (en) 2013-08-21 2015-08-25 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants
WO2015027085A1 (en) 2013-08-22 2015-02-26 Genomoncology, Llc Computer-based systems and methods for analyzing genomes based on discrete data structures corresponding to genetic variants therein
HK1226158A1 (zh) * 2013-09-30 2017-09-22 Seven Bridges Genomics Inc. 用於检测序列变异体的方法和系统
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
US20150106115A1 (en) * 2013-10-10 2015-04-16 International Business Machines Corporation Densification of longitudinal emr for improved phenotyping
AU2014337093B2 (en) 2013-10-18 2020-07-30 Seven Bridges Genomics Inc. Methods and systems for identifying disease-induced mutations
JP2017500004A (ja) 2013-10-18 2017-01-05 セブン ブリッジズ ジェノミクス インコーポレイテッド 遺伝子試料について遺伝子型解析するための方法およびシステム
WO2015058095A1 (en) 2013-10-18 2015-04-23 Seven Bridges Genomics Inc. Methods and systems for quantifying sequence alignment
US11049587B2 (en) 2013-10-18 2021-06-29 Seven Bridges Genomics Inc. Methods and systems for aligning sequences in the presence of repeating elements
US9063914B2 (en) 2013-10-21 2015-06-23 Seven Bridges Genomics Inc. Systems and methods for transcriptome analysis
EP3069285A4 (en) * 2013-11-13 2017-08-30 Five3 Genomics, LLC Systems and methods for transmission and pre-processing of sequencing data
EP3092317B1 (en) 2014-01-10 2021-04-21 Seven Bridges Genomics Inc. Systems and methods for use of known alleles in read mapping
US9817944B2 (en) 2014-02-11 2017-11-14 Seven Bridges Genomics Inc. Systems and methods for analyzing sequence data
CN106537400B (zh) * 2014-02-26 2019-04-09 南托米克斯公司 安全的移动基因组浏览设备及用于其的方法
AU2015311677A1 (en) * 2014-09-05 2017-04-27 Nantomics, Llc Systems and methods for determination of provenance
CA2964349C (en) 2014-10-14 2023-03-21 Seven Bridges Genomics Inc. Systems and methods for smart tools in sequence pipelines
US10192026B2 (en) 2015-03-05 2019-01-29 Seven Bridges Genomics Inc. Systems and methods for genomic pattern analysis
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US10275567B2 (en) 2015-05-22 2019-04-30 Seven Bridges Genomics Inc. Systems and methods for haplotyping
SG11201707649SA (en) * 2015-06-24 2017-10-30 Samsung Life Public Welfare Foundation Method and device for analyzing gene
WO2017009402A1 (en) * 2015-07-16 2017-01-19 Koninklijke Philips N.V. Device, system and method for managing treatment of an inflammatory autoimmune disease of a person
US10793895B2 (en) 2015-08-24 2020-10-06 Seven Bridges Genomics Inc. Systems and methods for epigenetic analysis
US10584380B2 (en) 2015-09-01 2020-03-10 Seven Bridges Genomics Inc. Systems and methods for mitochondrial analysis
US10724110B2 (en) 2015-09-01 2020-07-28 Seven Bridges Genomics Inc. Systems and methods for analyzing viral nucleic acids
US11347704B2 (en) 2015-10-16 2022-05-31 Seven Bridges Genomics Inc. Biological graph or sequence serialization
US20170199960A1 (en) 2016-01-07 2017-07-13 Seven Bridges Genomics Inc. Systems and methods for adaptive local alignment for graph genomes
US10364468B2 (en) 2016-01-13 2019-07-30 Seven Bridges Genomics Inc. Systems and methods for analyzing circulating tumor DNA
US10460829B2 (en) 2016-01-26 2019-10-29 Seven Bridges Genomics Inc. Systems and methods for encoding genetic variation for a population
CA3014292A1 (en) 2016-02-12 2017-08-17 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
US10262102B2 (en) 2016-02-24 2019-04-16 Seven Bridges Genomics Inc. Systems and methods for genotyping with graph reference
US10790044B2 (en) 2016-05-19 2020-09-29 Seven Bridges Genomics Inc. Systems and methods for sequence encoding, storage, and compression
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
US11289177B2 (en) 2016-08-08 2022-03-29 Seven Bridges Genomics, Inc. Computer method and system of identifying genomic mutations using graph-based local assembly
US11250931B2 (en) 2016-09-01 2022-02-15 Seven Bridges Genomics Inc. Systems and methods for detecting recombination
WO2018060365A1 (en) * 2016-09-29 2018-04-05 Koninklijke Philips N.V. Genomic variant ranking system for clinical trial matching
SG11201903270RA (en) * 2016-10-11 2019-05-30 Genomsys Sa Method and system for selective access of stored or transmitted bioinformatics data
US10319465B2 (en) 2016-11-16 2019-06-11 Seven Bridges Genomics Inc. Systems and methods for aligning sequences to graph references
US11347844B2 (en) 2017-03-01 2022-05-31 Seven Bridges Genomics, Inc. Data security in bioinformatic sequence analysis
US10726110B2 (en) 2017-03-01 2020-07-28 Seven Bridges Genomics, Inc. Watermarking for data security in bioinformatic sequence analysis
EP3607481A1 (en) * 2017-04-06 2020-02-12 Koninklijke Philips N.V. Method and apparatus for masking clinically irrelevant ancestry information in genetic data
US11177042B2 (en) * 2017-08-23 2021-11-16 International Business Machines Corporation Genetic disease modeling
CN107609348B (zh) * 2017-08-29 2020-06-23 上海三誉华夏基因科技有限公司 高通量转录组数据样本分类数目估计方法
US20190156923A1 (en) * 2017-11-17 2019-05-23 LunaPBC Personal, omic, and phenotype data community aggregation platform
CN107967410B (zh) * 2017-11-27 2021-07-30 电子科技大学 一种面向基因表达与甲基化数据的融合方法
CN107944224B (zh) * 2017-12-06 2021-04-13 懿奈(上海)生物科技有限公司 构建皮肤相关基因标准型别数据库的方法及应用
US12046325B2 (en) 2018-02-14 2024-07-23 Seven Bridges Genomics Inc. System and method for sequence identification in reassembly variant calling
US11574701B1 (en) 2018-11-28 2023-02-07 Allscripts Software, Llc Computing system for normalizing computer-readable genetic test results from numerous different sources
WO2020139379A1 (en) 2018-12-28 2020-07-02 LunaPBC Community data aggregation, completion, correction, and use
CN109979537B (zh) * 2019-03-15 2020-12-18 南京邮电大学 一种面向多条序列的基因序列数据压缩方法
CN111028883B (zh) * 2019-11-20 2023-07-18 广州达美智能科技有限公司 基于布尔代数的基因处理方法、装置及可读存储介质
CN111785370B (zh) * 2020-07-01 2024-05-17 医渡云(北京)技术有限公司 病历数据处理方法及装置、计算机存储介质、电子设备
US20230260598A1 (en) * 2022-02-14 2023-08-17 AiOnco, Inc. Approaches to normalizing genetic information derived by different types of extraction kits to be used for screening, diagnosing, and stratifying patients and systems for implementing the same
CN115602249B (zh) * 2022-10-24 2025-12-30 哈尔滨工程大学 基于多视角图卷积网络的长链非编码rna-疾病关联预测系统
WO2024186701A1 (en) * 2023-03-03 2024-09-12 AiOnco, Inc. Algorithmic approach to removing extraction kit bias from genetic information and system for implementing the same
CN119541627B (zh) * 2025-01-22 2025-05-09 温州医科大学附属眼视光医院 一种在基因转录水平评价蛋白质结合效率的方法、设备、介质和程序产品
CN120496715B (zh) * 2025-05-23 2026-04-17 康奥生物科技(天津)股份有限公司 一种试验遴选研究方法及系统

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2440035A1 (en) * 2001-03-05 2002-09-12 Gene Logic, Inc. A system and method for managing gene expression data
US7529685B2 (en) * 2001-08-28 2009-05-05 Md Datacor, Inc. System, method, and apparatus for storing, retrieving, and integrating clinical, diagnostic, genomic, and therapeutic data
JP2003271735A (ja) * 2002-03-12 2003-09-26 Yokogawa Electric Corp 遺伝子診断分析装置およびそれを用いた遺伝子診断支援システム
US7729865B2 (en) * 2003-10-06 2010-06-01 Cerner Innovation, Inc. Computerized method and system for automated correlation of genetic test results
WO2006052242A1 (en) * 2004-11-08 2006-05-18 Seirad, Inc. Methods and systems for compressing and comparing genomic data
US20060223058A1 (en) * 2005-04-01 2006-10-05 Perlegen Sciences, Inc. In vitro association studies
CN101378764A (zh) * 2005-12-09 2009-03-04 贝勒研究院 通过血液白细胞微阵列分析对系统性红斑狼疮的诊断、预后和疾病发展的监测
JP4852313B2 (ja) * 2006-01-20 2012-01-11 富士通株式会社 ゲノム解析プログラム、該プログラムを記録した記録媒体、ゲノム解析装置およびゲノム解析方法
CA2688312A1 (en) * 2007-05-25 2008-12-04 Decode Genetics Ehf. Genetic variants on chr 5p12 and 10q26 as markers for use in breast cancer risk assessment, diagnosis, prognosis and treatment
CN102067142A (zh) * 2008-02-26 2011-05-18 普渡研究基金会 用于患者基因分型的方法
JP2010157214A (ja) * 2008-12-02 2010-07-15 Sony Corp 遺伝子クラスタリングプログラム、遺伝子クラスタリング方法及び遺伝子クラスター解析装置

Also Published As

Publication number Publication date
RU2013138422A (ru) 2015-02-27
JP2014508994A (ja) 2014-04-10
WO2012098515A1 (en) 2012-07-26
CN103329138A (zh) 2013-09-25
US20140229495A1 (en) 2014-08-14
BR112013018139A2 (pt) 2016-11-08
CN111192634A (zh) 2020-05-22
BR112013018139A8 (pt) 2018-02-06
EP2666115A1 (en) 2013-11-27

Similar Documents

Publication Publication Date Title
JP6420543B2 (ja) ゲノムデータ処理方法
JP2014508994A5 (https=)
JP7689557B2 (ja) 相同組換え欠損を推定するための統合された機械学習フレームワーク
EP4008005B1 (en) Methods and systems for detecting microsatellite instability of a cancer in a liquid biopsy assay
JP7813140B2 (ja) 病原体検出のための配列決定データを使用するためのシステムおよび方法
EP4073805B1 (en) Systems and methods for predicting homologous recombination deficiency status of a specimen
US20250061972A1 (en) Molecular response and progression detection from circulating cell free dna
US20210358626A1 (en) Systems and methods for cancer condition determination using autoencoders
US20220215900A1 (en) Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics
JP2022532897A (ja) マルチラベルがん分類のためのシステムおよび方法
CN112601826A (zh) 通过全基因组整合进行循环肿瘤dna的超灵敏检测
US20190228836A1 (en) Systems and methods for predicting genetic diseases
WO2022159774A2 (en) METHODS AND SYSTEMS FOR mRNA BOUNDARY ANALYSIS IN NEXT GENERATION SEQUENCING
JP2025158958A (ja) 腫瘍情報に基づいた循環腫瘍割合の推定のための方法およびシステム
JP2025124606A (ja) 液体生検アッセイにおける血液腫瘍遺伝子変異量を決定するための方法およびシステム
US20240312564A1 (en) White blood cell contamination detection
US20240021267A1 (en) Dynamically selecting sequencing subregions for cancer classification
CN114730610A (zh) 试剂盒和使用试剂盒的方法
US20250336474A1 (en) Method for identifying a particular gene
US20240296920A1 (en) Redacting cell-free dna from test samples for classification by a mixture model
WO2025122662A1 (en) Systems and methods for detecting somatic variants derived from circulating tumor nucleic acids

Legal Events

Date Code Title Description
A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20150116

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20150703

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20160510

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20160805

A02 Decision of refusal

Free format text: JAPANESE INTERMEDIATE CODE: A02

Effective date: 20170117

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20170509

A911 Transfer to examiner for re-examination before appeal (zenchi)

Free format text: JAPANESE INTERMEDIATE CODE: A911

Effective date: 20170517

A912 Re-examination (zenchi) completed and case transferred to appeal board

Free format text: JAPANESE INTERMEDIATE CODE: A912

Effective date: 20170609

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20180619

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20181012

R150 Certificate of patent or registration of utility model

Ref document number: 6420543

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

LAPS Cancellation because of no payment of annual fees