PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

被引:0
作者
Elizabeth Wohler
Renan Martin
Sean Griffith
Eliete da S. Rodrigues
Corina Antonescu
Jennifer E. Posey
Zeynep Coban-Akdemir
Shalini N. Jhangiani
Kimberly F. Doheny
James R. Lupski
David Valle
Ada Hamosh
Nara Sobreira
机构
[1] Johns Hopkins University School of Medicine,Department of Genetic Medicine
[2] Johns Hopkins School of Medicine,Center for Inherited Disease Research
[3] Baylor College of Medicine, CIDR
[4] Baylor College of Medicine,Department of Molecular and Human Genetics
[5] Baylor College of Medicine,Human Genome Sequencing Center
[6] Texas Children’s Hospital,Department of Pediatrics
来源
Orphanet Journal of Rare Diseases | / 16卷
关键词
PhenoDB; GeneMatcher; VariantMatcher; Data sharing; Genomic data;
D O I
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中图分类号
学科分类号
摘要
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[1]  
Hamosh A(2013)PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features Hum Mutat 34 566-571
[2]  
Sobreira N(2015)New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene Hum Mutat 36 425-431
[3]  
Hoover-Fong J(2013)Genic intolerance to functional variation and the interpretation of personal genomes PLoS Genet 9 e1003709-D798
[4]  
Sutton VR(2015)OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders Nucleic Acids Res 43 D789-D806
[5]  
Boehm C(2019)Mouse genome database (MGD) 2019 Nucleic Acids Res 47 D801-585
[6]  
Schiettecatte F(2013)The genotype-tissue expression (GTEx) project Nat Genet 45 580-D613
[7]  
Sobreira N(2019)STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets Nucleic Acids Res 47 D607-29
[8]  
Schiettecatte F(2000)Gene ontology: tool for the unification of biology Gene Ontol Consor Nat Genet 25 25-D338
[9]  
Boehm C(2019)The gene ontology resource: 20 years and still GOing strong Nucleic Acids Res 47 D330-D1067
[10]  
Valle D(2018)ClinVar: improving access to variant interpretations and supporting evidence Nucleic Acids Res 46 D1062-D515