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Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2019

Basel-Salmon Lina, Orenstein Naama, Markus-Bustani Keren, Ruhrman-Shahar Noa, Kilim Yael, Magal Nurit, Hubshman Monika Weisz, Bazak Lily

Abstract excerpt

PURPOSE: Reanalysis of exome sequencing data when results are negative may yield additional diagnoses. We sought to estimate the contribution of clinical geneticists to the interpretation of sequencing data of their patients. METHODS: The cohort included 84 probands attending a tertiary genetics institute (2015-2018) with a nondiagnostic result on clinical exome sequencing performed in one of five external...

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PMID: 30377382
DOI: 10.1038/s41436-018-0343-7

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