Your browser doesn't support javascript.
loading
PhenoScanner: a database of human genotype-phenotype associations.
Staley, James R; Blackshaw, James; Kamat, Mihir A; Ellis, Steve; Surendran, Praveen; Sun, Benjamin B; Paul, Dirk S; Freitag, Daniel; Burgess, Stephen; Danesh, John; Young, Robin; Butterworth, Adam S.
Afiliação
  • Staley JR; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Blackshaw J; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Kamat MA; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Ellis S; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Surendran P; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Sun BB; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Paul DS; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Freitag D; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Burgess S; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Danesh J; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK NIHR Blood and Transplant Research Unit, Department of Public Health and Primary Care, University of Cambridge, Cambrid
  • Young R; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK Robertson Centre for Biostatistics, University of Glasgow, Glasgow G12 8QQ, UK.
  • Butterworth AS; Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK NIHR Blood and Transplant Research Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Bioinformatics ; 32(20): 3207-3209, 2016 10 15.
Article em En | MEDLINE | ID: mdl-27318201
ABSTRACT
PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate 'phenome scans', the cross-referencing of genetic variants with many phenotypes, to help aid understanding of disease pathways and biology. The database currently contains over 350 million association results and over 10 million unique genetic variants, mostly single nucleotide polymorphisms. It is accompanied by a web-based tool that queries the database for associations with user-specified variants, providing results according to the same effect and non-effect alleles for each input variant. The tool provides the option of searching for trait associations with proxies of the input variants, calculated using the European samples from 1000 Genomes and Hapmap. AVAILABILITY AND IMPLEMENTATION PhenoScanner is available at www.phenoscanner.medschl.cam.ac.uk CONTACT jrs95@medschl.cam.ac.ukSupplementary information Supplementary data are available at Bioinformatics online.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bases de Dados Factuais Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bases de Dados Factuais Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido