Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

Stephanie A Felker James M J LawlorSusan M HiattMichelle L ThompsonDonald R LatnerCandice R FinnilaKevin M BowlingZachary T BonnstetterKatherine E BoniniNicole R KellyWhitley V KelleyAnna Ce HurstMelissa A KellyGhunwa NakouziLaura G HendonE Martina BebinEimear E KennyGregory M Cooper

Published in: bioRxiv : the preprint server for biology (2023)

With only a minimal increase in variant analysis burden (most probands had zero or one candidate PE variants in a known NDD gene, with an average of 0.77 per proband), annotation of PEs can improve diagnostic yield for NDDs and likely other congenital conditions.

Keyphrases

copy number
genome wide
risk factors
gene expression
rna seq