Evaluating human genetic support for hypothesized metabolic disease genes

Peter Dornbos; Preeti Singh; Dong-Keun Jang; Anubha Mahajan; Sudha B Biddinger; Jerome I Rotter; Mark I McCarthy; Jason Flannick

doi:10.1016/j.cmet.2022.03.011

Evaluating human genetic support for hypothesized metabolic disease genes

Cell Metab. 2022 May 3;34(5):661-666. doi: 10.1016/j.cmet.2022.03.011. Epub 2022 Apr 13.

Authors

Peter Dornbos¹, Preeti Singh², Dong-Keun Jang², Anubha Mahajan³, Sudha B Biddinger⁴, Jerome I Rotter⁵, Mark I McCarthy³, Jason Flannick⁶

Affiliations

¹ Programs in Metabolism and Medical & Population Genetics, Broad Institute, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
² Programs in Metabolism and Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.
³ Genentech, South San Francisco, CA, USA.
⁴ Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
⁵ The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
⁶ Programs in Metabolism and Medical & Population Genetics, Broad Institute, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: flannick@broadinstitute.org.

Abstract

We investigate the extent to which human genetic data are incorporated into studies that hypothesize novel links between genes and metabolic disease. To lower the barriers to using genetic data, we present an approach to enable researchers to evaluate human genetic support for experimentally determined hypotheses.

Evaluating human genetic support for hypothesized metabolic disease genes

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Abstract

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