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Article

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

Nature - 13 Aug 2015

Jordan Daniel M, Frangakis Stephan G, Golzio Christelle, Cassa Christopher A, Kurtzberg Joanne, Davis Erica E, Sunyaev Shamil R, Katsanis Nicholas

Abstract excerpt

Patterns of amino acid conservation have served as a tool for understanding protein evolution. The same principles have also found broad application in human genomics, driven by the need to interpret the pathogenic potential of variants in patients. Here we performed a systematic comparative genomics analysis of human disease-causing missense variants. We found that an appreciable fraction of disease-causing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26123021
DOI: 10.1038/nature14497
PMCID: PMC4537371

Genes

BTG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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