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The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.

Clinical genetics - 1 Jan 2024

Sullivan Jennifer A, Spillmann Rebecca C, Schoch Kelly, Walley Nicole, Alkelai Anna, Stong Nicholas, Shea Patrick R, Petrovski Slavè, Jobanputra Vaidehi, McConkie-Rosell Allyn, Shashi Vandana

Abstract excerpt

Genomic medicine has been transformed by next-generation sequencing (NGS), inclusive of exome sequencing (ES) and genome sequencing (GS). Currently, ES is offered widely in clinical settings, with a less prevalent alternative model consisting of hybrid programs that incorporate research ES along with clinical patient workflows. We were among the earliest to implement a hybrid ES clinic, have provided diagnoses to...

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PMID: 37853563
DOI: 10.1111/cge.14437

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