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Article

Identification of deleterious synonymous variants in human genomes.

Bioinformatics (Oxford, England) - 1 Aug 2013

Buske Orion J, Manickaraj AshokKumar, Mital Seema, Ray Peter N, Brudno Michael

Abstract excerpt

MOTIVATION: The prioritization and identification of disease-causing mutations is one of the most significant challenges in medical genomics. Currently available methods address this problem for non-synonymous single nucleotide variants (SNVs) and variation in promoters/enhancers; however, recent research has implicated synonymous (silent) exonic mutations in a number of disorders. RESULTS: We have curated 33...

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PMID: 23736532
DOI: 10.1093/bioinformatics/btt308

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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