Identification of cis-suppression of human disease mutations by comparative genomics
Identification of cis-suppression of human disease mutations by comparative genomics
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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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.
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Identification of cis-suppression of human disease mutations by comparative genomics
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4537371
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4537371
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ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature14497
