JP6707081B2 - 正の選択下で遺伝子を同定する方法 - Google Patents

正の選択下で遺伝子を同定する方法 Download PDF

Info

Publication number
JP6707081B2
JP6707081B2 JP2017522100A JP2017522100A JP6707081B2 JP 6707081 B2 JP6707081 B2 JP 6707081B2 JP 2017522100 A JP2017522100 A JP 2017522100A JP 2017522100 A JP2017522100 A JP 2017522100A JP 6707081 B2 JP6707081 B2 JP 6707081B2
Authority
JP
Japan
Prior art keywords
mutations
distribution
scores
gene
genes
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
JP2017522100A
Other languages
English (en)
Japanese (ja)
Other versions
JP2017537380A (ja
JP2017537380A5 (cg-RX-API-DMAC10.html
Inventor
リチタージ・オリビエ
スー・テン−クウェイ
カトソニス・パナジオティス
コワル・アマンダ・ミシェル
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.)
Baylor College of Medicine
Original Assignee
Baylor College of Medicine
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 Baylor College of Medicine filed Critical Baylor College of Medicine
Publication of JP2017537380A publication Critical patent/JP2017537380A/ja
Publication of JP2017537380A5 publication Critical patent/JP2017537380A5/ja
Application granted granted Critical
Publication of JP6707081B2 publication Critical patent/JP6707081B2/ja
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

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
    • G16B10/00—ICT specially adapted for evolutionary bioinformatics, e.g. phylogenetic tree construction or analysis
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
    • G06F17/10—Complex mathematical operations
    • G06F17/11—Complex mathematical operations for solving equations, e.g. nonlinear equations, general mathematical optimization problems
    • G06F17/13—Differential equations
    • 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
    • G16B35/00—ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16C—COMPUTATIONAL CHEMISTRY; CHEMOINFORMATICS; COMPUTATIONAL MATERIALS SCIENCE
    • G16C20/00—Chemoinformatics, i.e. ICT specially adapted for the handling of physicochemical or structural data of chemical particles, elements, compounds or mixtures
    • G16C20/60—In silico combinatorial chemistry
    • 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

Landscapes

  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Evolutionary Biology (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Mathematical Physics (AREA)
  • General Physics & Mathematics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Computational Mathematics (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Analysis (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Data Mining & Analysis (AREA)
  • Animal Behavior & Ethology (AREA)
  • Library & Information Science (AREA)
  • Physiology (AREA)
  • Medicinal Chemistry (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Computing Systems (AREA)
  • Biochemistry (AREA)
  • Operations Research (AREA)
  • Algebra (AREA)
  • General Engineering & Computer Science (AREA)
  • Software Systems (AREA)
  • Databases & Information Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
JP2017522100A 2014-10-22 2015-10-21 正の選択下で遺伝子を同定する方法 Expired - Fee Related JP6707081B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462067294P 2014-10-22 2014-10-22
US62/067,294 2014-10-22
PCT/US2015/056646 WO2016064995A1 (en) 2014-10-22 2015-10-21 Method to identify genes under positive selection

Publications (3)

Publication Number Publication Date
JP2017537380A JP2017537380A (ja) 2017-12-14
JP2017537380A5 JP2017537380A5 (cg-RX-API-DMAC10.html) 2018-11-29
JP6707081B2 true JP6707081B2 (ja) 2020-06-10

Family

ID=54541186

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2017522100A Expired - Fee Related JP6707081B2 (ja) 2014-10-22 2015-10-21 正の選択下で遺伝子を同定する方法

Country Status (6)

Country Link
US (1) US10886005B2 (cg-RX-API-DMAC10.html)
EP (1) EP3210141A1 (cg-RX-API-DMAC10.html)
JP (1) JP6707081B2 (cg-RX-API-DMAC10.html)
AU (1) AU2015336005B2 (cg-RX-API-DMAC10.html)
CA (1) CA2965163A1 (cg-RX-API-DMAC10.html)
WO (1) WO2016064995A1 (cg-RX-API-DMAC10.html)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016064995A1 (en) 2014-10-22 2016-04-28 Baylor College Of Medicine Method to identify genes under positive selection
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
JP6765433B2 (ja) 2016-02-12 2020-10-07 リジェネロン・ファーマシューティカルズ・インコーポレイテッドRegeneron Pharmaceuticals, Inc. 異常な核型の検出のための方法
US11281977B2 (en) * 2017-07-31 2022-03-22 Cognizant Technology Solutions U.S. Corporation Training and control system for evolving solutions to data-intensive problems using epigenetic enabled individuals
CN110782947A (zh) * 2019-10-18 2020-02-11 湖南大学 基于蛋白质序列功能区域的癌症驱动识别
WO2021178952A1 (en) * 2020-03-06 2021-09-10 The Research Institute At Nationwide Children's Hospital Genome dashboard
CN113643754B (zh) * 2021-08-11 2023-12-29 苏州赛美科基因科技有限公司 一种错义变异基因的评分处理方法、优化评分方法及装置
CN116897723A (zh) * 2022-08-01 2023-10-20 中国农业科学院都市农业研究所 一种基于植物感光基因调节的光源排列系统及方法

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2899660A1 (en) 1999-08-27 2015-07-29 Iris Biotechnologies Inc. Artificial intelligence system for genetic analysis
WO2003046153A2 (en) 2001-11-28 2003-06-05 Baylor College Of Medicine The use of quantitative evolutionary trace analysis to determine functional residues
KR101325736B1 (ko) * 2010-10-27 2013-11-08 삼성에스디에스 주식회사 바이오 마커 추출 장치 및 방법
WO2014007863A1 (en) 2012-07-03 2014-01-09 Baylor College Of Medicine Biological action of missense genotype perturbations on phenotype
WO2016064995A1 (en) 2014-10-22 2016-04-28 Baylor College Of Medicine Method to identify genes under positive selection

Also Published As

Publication number Publication date
CA2965163A1 (en) 2016-04-28
US20170316148A1 (en) 2017-11-02
JP2017537380A (ja) 2017-12-14
AU2015336005B2 (en) 2018-07-26
AU2015336005A1 (en) 2017-05-11
WO2016064995A1 (en) 2016-04-28
US10886005B2 (en) 2021-01-05
EP3210141A1 (en) 2017-08-30

Similar Documents

Publication Publication Date Title
Pejaver et al. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Kanzi et al. Next generation sequencing and bioinformatics analysis of family genetic inheritance
CN110870020B (zh) 利用卷积神经网络(cnns)进行异常剪接检测
US10886005B2 (en) Identifying genes associated with a phenotype
Acera Mateos et al. Prediction of m6A and m5C at single-molecule resolution reveals a transcriptome-wide co-occurrence of RNA modifications
Wu et al. Prediction of deleterious nonsynonymous single‐nucleotide polymorphism for human diseases
Huang et al. Characterising and predicting haploinsufficiency in the human genome
Savisaar et al. Exonic splice regulation imposes strong selection at synonymous sites
US20160357903A1 (en) A framework for determining the relative effect of genetic variants
CA2970345A1 (en) Method for determining genotypes in regions of high homology
Zhang et al. MaLAdapt reveals novel targets of adaptive introgression from Neanderthals and Denisovans in worldwide human populations
Hu et al. Integrated sequence analysis pipeline provides one‐stop solution for identifying disease‐causing mutations
Wood et al. Recommendations for accurate resolution of gene and isoform allele-specific expression in RNA-seq data
Riera et al. Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles
Pattaro et al. Haplotype block partitioning as a tool for dimensionality reduction in SNP association studies
Brand et al. Soft sweeps predominate recent positive selection in bonobos (Pan paniscus) and chimpanzees (Pan troglodytes)
Yu et al. Comprehensive assessment of eleven de Novo HiFi assemblers on complex eukaryotic genomes and metagenomes
Dutta et al. Deepvregulome: Dnabert-based deep-learning framework for predicting the functional impact of short genomic variants on the human regulome
Lindgreen et al. SNPest: a probabilistic graphical model for estimating genotypes
WO2014007863A1 (en) Biological action of missense genotype perturbations on phenotype
Begali A pipeline for markers selection using restriction site associated DNA sequencing (Radseq)
Roskams-Hieter Epistatic regulation of transcription factor binding and its impact on human traits
Sampson et al. Genotyping and inflated type I error rate in genome-wide association case/control studies
Arnal Segura Machine learning methods applied to classify complex diseases using genomic data
Samaddar et al. ReinVar: A model-free paradigm-based reinforcement learning approach to detect copy number variation

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20181016

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20181016

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20191203

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20200302

TRDD Decision of grant or rejection written
A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20200428

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20200519

R150 Certificate of patent or registration of utility model

Ref document number: 6707081

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

LAPS Cancellation because of no payment of annual fees