Article

Exome re-analysis driven by deep phenotyping increases diagnostic yield

2022-09-18

Abstract excerpt

<h4>Objective</h4> To explore if clinician driven systematic reanalysis of “negative” exome sequencing data of patients with a strong suspicion of a Mendelian disease by a Clinical Geneticist using deep phenotyping can increase the diagnostic yield. <h4>Methods</h4> Ten patients were deep phenotyped using Gestalt matching (Face2Gene) and OMIM database searching (Phenomizer) to build a list of candidate genes of in...

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Literature Corpus work: cb8d2352-ee6f-5951-8785-76311fef2951
DOI: 10.1101/2022.09.13.22279858

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