Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

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 immunolog...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055570/
https://www.ncbi.nlm.nih.gov/pubmed/36993157
http://dx.doi.org/10.1101/2023.03.18.23286992

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