4.2 Article

Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease

Journal

MAMMALIAN GENOME
Volume 33, Issue 1, Pages 135-142

Publisher

SPRINGER
DOI: 10.1007/s00335-021-09917-w

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Funding

  1. European Molecular Biology Laboratory
  2. National Human Genome Research Institute of the National Institutes of Health [UM1HG006370]

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Most current biomedical and protein research primarily focuses on a small number of genes, while the IMPC initiative aims to elucidate gene function at scale for poorly characterized genes. By implementing a broad phenotyping pipeline, the IMPC is able to uncover pleiotropy and discover new gene-disease associations. This is essential for increasing our understanding of the mammalian genome and generating new research opportunities.
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.

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