Article
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Clinical genetics - 1 Sept 2023
Berger Seth I, Pitsava Georgia, Cohen Andrea J, Délot Emmanuèle C, LoTempio Jonathan, Andrew Erin Hallie, Martin Gloria Mas, Marmolejos Sofia, Albert Jessica, Meltzer Beatrix, Fraser Jamie, Regier Debra S, Kahn-Kirby Amanda H, Smith Erica, Knoblach Susan, Ko Arthur, Fusaro Vincent A, Vilain Eric
Abstract excerpt
We evaluated the diagnostic yield using genome-slice panel reanalysis in the clinical setting using an automated phenotype/gene ranking system. We analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as bioinformatic slices for 16 clinically diverse, undiagnosed cases referred to the Pediatric Mendelian Genomics Research Center, an NHGRI-funded GREGoR Consortium site....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.