Identification of cis-suppression of human disease mutations by comparative genomics

Daniel M. Jordan, Stephan G. Frangakis, Christelle Golzio, Christopher A. Cassa, Joanne Kurtzberg, Erica E. Davis, Shamil R. Sunyaev () and Nicholas Katsanis ()
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Daniel M. Jordan: Brigham and Women's Hospital and Harvard Medical School
Stephan G. Frangakis: Center for Human Disease Modeling, Duke University
Christelle Golzio: Center for Human Disease Modeling, Duke University
Christopher A. Cassa: Brigham and Women's Hospital and Harvard Medical School
Joanne Kurtzberg: Duke University
Erica E. Davis: Center for Human Disease Modeling, Duke University
Shamil R. Sunyaev: Brigham and Women's Hospital and Harvard Medical School
Nicholas Katsanis: Center for Human Disease Modeling, Duke University

Nature, 2015, vol. 524, issue 7564, 225-229

Abstract: Patterns of amino acid conservation have been used to guide the interpretation of the disease-causing potential of genetic variants in patients; now, an appreciable fraction of pathogenic alleles are shown to be fixed in the genomes of other species, suggesting that the genomic context has an important role in allele pathogenicity.

Date: 2015
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DOI: 10.1038/nature14497

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