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Article

The clinical utility of rapid exome sequencing in a consanguineous population.

Genome medicine - 21 Jun 2023

Monies Dorota, Goljan Ewa, Assoum Mirna, Albreacan Muna, Binhumaid Faisal, Subhani Shazia, Boureggah Abdulmlik, Hashem Mais, Abdulwahab Firdous, Abuyousef Omar, Temsah Mohamad H, Alsohime Fahad, Kelaher James, Abouelhoda Mohamed, Meyer Brian F, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is typically employed in specialized clinical settings wherein urgent molecular diagnosis is thought to influence acute management. Studies on the clinical utility of RES have been largely limited to outbred populations. METHODS: Here, we describe...

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Identifiers

PMID: 37344829
DOI: 10.1186/s13073-023-01192-5
PMCID: PMC10283251

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