AU2015336005B2 - Method to identify genes under positive selection - Google Patents

Method to identify genes under positive selection Download PDF

Info

Publication number
AU2015336005B2
AU2015336005B2 AU2015336005A AU2015336005A AU2015336005B2 AU 2015336005 B2 AU2015336005 B2 AU 2015336005B2 AU 2015336005 A AU2015336005 A AU 2015336005A AU 2015336005 A AU2015336005 A AU 2015336005A AU 2015336005 B2 AU2015336005 B2 AU 2015336005B2
Authority
AU
Australia
Prior art keywords
mutations
scores
distributions
genes
evolutionary
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.)
Ceased
Application number
AU2015336005A
Other languages
English (en)
Other versions
AU2015336005A1 (en
Inventor
Teng-Kuei Hsu
Panagiotis KATSONIS
Amanda Michele Koire
Olivier Lichtarge
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 AU2015336005A1 publication Critical patent/AU2015336005A1/en
Application granted granted Critical
Publication of AU2015336005B2 publication Critical patent/AU2015336005B2/en
Ceased legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F17/00Digital computing or data processing equipment or methods, specially adapted for specific functions
    • G06F17/10Complex mathematical operations
    • G06F17/11Complex mathematical operations for solving equations, e.g. nonlinear equations, general mathematical optimization problems
    • G06F17/13Differential equations
    • 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
    • G16B10/00ICT specially adapted for evolutionary bioinformatics, e.g. phylogenetic tree construction or analysis
    • 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
    • G16B35/00ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16CCOMPUTATIONAL CHEMISTRY; CHEMOINFORMATICS; COMPUTATIONAL MATERIALS SCIENCE
    • G16C20/00Chemoinformatics, i.e. ICT specially adapted for the handling of physicochemical or structural data of chemical particles, elements, compounds or mixtures
    • G16C20/60In silico combinatorial chemistry
    • 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
    • G16B20/40Population genetics; Linkage disequilibrium

Landscapes

  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Molecular Biology (AREA)
  • Mathematical Physics (AREA)
  • General Physics & Mathematics (AREA)
  • Computational Mathematics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Analysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Data Mining & Analysis (AREA)
  • Biochemistry (AREA)
  • Physiology (AREA)
  • Computing Systems (AREA)
  • Animal Behavior & Ethology (AREA)
  • Library & Information Science (AREA)
  • Medicinal Chemistry (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Algebra (AREA)
  • Operations Research (AREA)
  • Databases & Information Systems (AREA)
  • Software Systems (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
AU2015336005A 2014-10-22 2015-10-21 Method to identify genes under positive selection Ceased AU2015336005B2 (en)

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 (2)

Publication Number Publication Date
AU2015336005A1 AU2015336005A1 (en) 2017-05-11
AU2015336005B2 true AU2015336005B2 (en) 2018-07-26

Family

ID=54541186

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2015336005A Ceased AU2015336005B2 (en) 2014-10-22 2015-10-21 Method to identify genes under positive selection

Country Status (6)

Country Link
US (1) US10886005B2 (enExample)
EP (1) EP3210141A1 (enExample)
JP (1) JP6707081B2 (enExample)
AU (1) AU2015336005B2 (enExample)
CA (1) CA2965163A1 (enExample)
WO (1) WO2016064995A1 (enExample)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2965163A1 (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
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
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

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001016860A2 (en) * 1999-08-27 2001-03-08 Iris Bio Technologies, Inc. Artificial intelligence system for genetic analysis
US20040023296A1 (en) 2001-11-28 2004-02-05 Baylor College Of Medicine 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
WO2014007865A1 (en) 2012-07-03 2014-01-09 Baylor College Of Medicine Evolutionary-gradient scoring of tp53 mutations (egsp53) defines risk in resectable head and neck cancer
CA2965163A1 (en) 2014-10-22 2016-04-28 Baylor College Of Medicine Method to identify genes under positive selection

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
KATSONIS, P. et al "A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness" GENOME RESEARCH, vol. 24, no. 12 published 12 Sept 2014, pages 2050-2058 *

Also Published As

Publication number Publication date
EP3210141A1 (en) 2017-08-30
WO2016064995A1 (en) 2016-04-28
US20170316148A1 (en) 2017-11-02
CA2965163A1 (en) 2016-04-28
JP2017537380A (ja) 2017-12-14
JP6707081B2 (ja) 2020-06-10
AU2015336005A1 (en) 2017-05-11
US10886005B2 (en) 2021-01-05

Similar Documents

Publication Publication Date Title
Pejaver et al. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
AU2015336005B2 (en) Method to identify genes under positive selection
Katsonis et al. A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness
Sahlin et al. Error correction enables use of Oxford Nanopore technology for reference-free transcriptome analysis
Reumers et al. Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
Tang et al. Tools for predicting the functional impact of nonsynonymous genetic variation
Li A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Huang et al. Characterising and predicting haploinsufficiency in the human genome
US9773091B2 (en) Systems and methods for genomic annotation and distributed variant interpretation
Williams et al. Genes contributing to pain sensitivity in the normal population: an exome sequencing study
Chakraborty et al. A survey on prediction of specificity-determining sites in proteins
CA2970345A1 (en) Method for determining genotypes in regions of high homology
Wei et al. Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase
Fenton et al. Rheostat positions: A new classification of protein positions relevant to pharmacogenomics
Arifuzzaman et al. In silico analysis of nonsynonymous single‐nucleotide polymorphisms (nsSNPs) of the SMPX gene
Wierbowski et al. A 3D structural SARS-CoV-2–human interactome to explore genetic and drug perturbations
Weissenkampen et al. Methods for the analysis and interpretation for rare variants associated with complex traits
Riera et al. Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles
Biswas et al. Detecting rare haplotype‐environment interaction with logistic Bayesian LASSO
Sezerman et al. Genomic Variant Discovery, Interpretation and Prioritization
WO2018152267A1 (en) Reliable and secure detection techniques for processing genome data in next generation sequencing (ngs)
Pattaro et al. Haplotype block partitioning as a tool for dimensionality reduction in SNP association studies
Zhang et al. Large Bi-ethnic study of plasma proteome leads to comprehensive mapping of cis-pQTL and models for proteome-wide association studies
Shorthouse et al. Understanding large scale sequencing datasets through changes to protein folding
Chentoufi et al. Computational study of the potential impact of WHRN protein missense SNPs on WHRN-MYO15A protein complex interaction and their association with Usher syndrome

Legal Events

Date Code Title Description
FGA Letters patent sealed or granted (standard patent)
MK14 Patent ceased section 143(a) (annual fees not paid) or expired