Clinical genome sequencing: three years experience at a tertiary childrens hospital
Runjun D. Kumar, Lisa F. Saba, Haley E. Streff, Chad A. Shaw, Elizabeth A. Mizerik, Matthew T. Snyder, Dolores H Lopez-Terrada, Jennifer C. Scull
This study evaluates clinical genome sequencing (GS) over three years at a children's hospital, finding a 35% diagnostic yield and frequent misordering, with higher yields in patients without prior exome sequencing.
Genetics in Medicine · Jun 16, 2023Peer-reviewedGenetic & Genomic Medicine