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

Author

Listed:
  • 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)

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.

Suggested Citation

  • Daniel M. Jordan & Stephan G. Frangakis & Christelle Golzio & Christopher A. Cassa & Joanne Kurtzberg & Erica E. Davis & Shamil R. Sunyaev & Nicholas Katsanis, 2015. "Identification of cis-suppression of human disease mutations by comparative genomics," Nature, Nature, vol. 524(7564), pages 225-229, August.
    • Handle: RePEc:nat:nature:v:524:y:2015:i:7564:d:10.1038_nature14497
    DOI: 10.1038/nature14497
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    Cited by:

    1. Stefano Castellana & Caterina Fusilli & Gianluigi Mazzoccoli & Tommaso Biagini & Daniele Capocefalo & Massimo Carella & Angelo Luigi Vescovi & Tommaso Mazza, 2017. "High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE," PLOS Computational Biology, Public Library of Science, vol. 13(6), pages 1-12, June.

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