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[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

Harefuah - 1 Apr 2017

Cohen Lior, Orenstein Naama, Weisz-Hubshman Monica, Bazak Lily, Davidov Bella, Reinstein Eyal, Tzur Shay, Behar Doron, Smirin-Yosef Pola, Salmon-Divon Mali, Gross Amit, Shohat Mordechai, Basel-Vanagaite Lina

Abstract excerpt

INTRODUCTION: Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions. METHODS: Exome enrichment was achieved by Nextera Rapid Capture...

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PMID: 28551919

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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