First tier rapid #exome/#genome #sequencing showed strong #diagnostic yield across #hospitalized #children, including non-ICU wards and failure to thrive admissions. bit.ly/4B8CExX

Uncovering #epilepsy genes could transform diagnosis and care.
This study identifies SBF1, CELSR2 and TENM1 as high-confidence candidate genes for #LennoxGastautSyndrome using individualized trio-based #exome analysis.
#OpenAccess in #GenesAndDiseases: doi.org/10.1016/j.ge...

The clinical utility of #exome sequencing for risk stratification in #CeliacDisease. New study from Talha Asif, Xiao-Fei Kong (University of Texas Southwestern Medical Center) and colleagues:
rupress.org/jhi/article/...

#Autoimmunity #Diagnostics