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Article

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

European journal of medical genetics - 1 Jan 2019

Al-Murshedi Fathiya, Meftah Douja, Scott Patrick

Abstract excerpt

BACKGROUND: Clinical whole exome sequencing (WES) yields a diagnosis in approximately 30% of patients evaluated for presumed genetic disorders. For unsolved cases, periodic reanalysis is usually predicated on the availability of improved bioinformatics tools or new gene discoveries. METHODS: Exome data reanalysis was independently performed on unsolved cases that had underwent trio analysis by an external service...

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Source

Identifiers

PMID: 29709712
DOI: 10.1016/j.ejmg.2018.04.016

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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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