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Article

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2017

Wenger Aaron M, Guturu Harendra, Bernstein Jonathan A, Bejerano Gill

Abstract excerpt

PURPOSE: Clinical exome sequencing is nondiagnostic for about 75% of patients evaluated for a possible Mendelian disorder. We examined the ability of systematic reevaluation of exome data to establish additional diagnoses. METHODS: The exome and phenotypic data of 40 individuals with previously nondiagnostic clinical exomes were reanalyzed with current software and literature. RESULTS: A definitive diagnosis was...

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PMID: 27441994
DOI: 10.1038/gim.2016.88

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

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