Article
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2023
Abul-Husn Noura S, Marathe Priya N, Kelly Nicole R, Bonini Katherine E, Sebastin Monisha, Odgis Jacqueline A, Abhyankar Avinash, Brown Kaitlyn, Di Biase Miranda, Gallagher Katie M, Guha Saurav, Ioele Nicolette, Okur Volkan, Ramos Michelle A, Rodriguez Jessica E, Rehman Atteeq U, Thomas-Wilson Amanda, Edelmann Lisa, Zinberg Randi E, Diaz George A, Greally John M, Jobanputra Vaidehi, Suckiel Sabrina A, Horowitz Carol R, Wasserstein Melissa P, Kenny Eimear E, Gelb Bruce D
Abstract excerpt
PURPOSE: Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions. METHODS: Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.