Article
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2023
Felker Stephanie A, Lawlor James M J, Hiatt Susan M, Thompson Michelle L, Latner Donald R, Finnila Candice R, Bowling Kevin M, Bonnstetter Zachary T, Bonini Katherine E, Kelly Nicole R, Kelley Whitley V, Hurst Anna C E, Rashid Salman, Kelly Melissa A, Nakouzi Ghunwa, Hendon Laura G, Bebin E Martina, Kenny Eimear E, Cooper Gregory M
Abstract excerpt
PURPOSE: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically relevant variants may be missed by standard analyses. Here, we analyze "poison exons" (PEs), which are evolutionarily conserved alternative exons often absent from standard gene annotations. Variants that alter PE inclusion can lead to loss of...
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