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Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease.
Muñoz-Fuentes, Violeta; Haselimashhadi, Hamed; Santos, Luis; Westerberg, Henrik; Parkinson, Helen; Mason, Jeremy.
Afiliação
  • Muñoz-Fuentes V; European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK. vmunoz@ebi.ac.uk.
  • Haselimashhadi H; European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
  • Santos L; MRC Harwell Institute, Harwell, OX11 0RD, UK.
  • Westerberg H; MRC Harwell Institute, Harwell, OX11 0RD, UK.
  • Parkinson H; European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
  • Mason J; European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK. jmason@ebi.ac.uk.
Mamm Genome ; 33(1): 135-142, 2022 03.
Article em En | MEDLINE | ID: mdl-34524473
Most current biomedical and protein research focuses only on a small proportion of genes, which results in a lost opportunity to identify new gene-disease associations and explore new opportunities for therapeutic intervention. The International Mouse Phenotyping Consortium (IMPC) focuses on elucidating gene function at scale for poorly characterized and/or under-studied genes. A key component of the IMPC initiative is the implementation of a broad phenotyping pipeline, which is facilitating the discovery of pleiotropy. Characterizing pleiotropy is essential to identify gene-disease associations, and it is of particular importance when elucidating the genetic causes of syndromic disorders. Here we show how the IMPC is effectively uncovering pleiotropy and how the new mouse models and gene function hypotheses generated by the IMPC are increasing our understanding of the mammalian genome, forming the basis of new research and identifying new gene-disease associations.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma / Mamíferos Limite: Animals Idioma: En Revista: Mamm Genome Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma / Mamíferos Limite: Animals Idioma: En Revista: Mamm Genome Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article