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

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 e...

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Veröffentlicht in:	Genetics in medicine 2023-08, Vol.25 (8), p.100884-100884, Article 100884
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Animals Base Sequence Epilepsy - diagnosis Epilepsy - genetics Exons - genetics Genomics Humans Mice Neurodevelopmental disorders Nonsense-mediated decay Phenotype Poison exon Voltage-gated sodium channels
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