The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic
Jennifer A. Sullivan,
Rebecca C. Spillmann,
Kelly Schoch
et al.
Abstract: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 45% of probands, and have identified several novel candidate genes. Our program is enabled by a co… Show more
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