Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt, Michelle L. Thompson, Donald R. Latner, Candice R. Finnila, Kevin M. Bowling, Zachary T Bonnstetter, Katherine E. Bonini, Nicole Kelly, Whitley V. Kelley, Anna C.E. Hurst, Salman Rashid, Melissa Kelly, Ghunwa A. Nakouzi, , 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.
Genetics in Medicine · May 6, 2023Peer-reviewedGenetics