Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Background: Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield of whole-genome sequencing (WGS) in a pediatric cohort with diverse phenotypes, par...

Full description

Bibliographic Details
Main Authors: Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Genetics
Subjects:
whole-genome sequencing
first tier
diagnostic yield
undiagnosed patients
pediatric geneticist
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1347474/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1347474/full

Similar Items