GeneticsGenetics in MedicinePeer-reviewed
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt…·Gregory M. Cooper
The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.