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Article

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome medicine - 17 Dec 2019

Salfati Elias L, Spencer Emily G, Topol Sarah E, Muse Evan D, Rueda Manuel, Lucas Jonathan R, Wagner Glenn N, Campman Steven, Topol Eric J, Torkamani Ali

Abstract excerpt

BACKGROUND: Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis. METHODS: Of the 101 WES cases, 51 were rare idiopathic disease cases and...

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Identifiers

PMID: 31847883
DOI: 10.1186/s13073-019-0702-2
PMCID: PMC6916453

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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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