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

PURPOSE: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we analyze "poison exons” (PEs) which, while often absent from...

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Detalles Bibliográficos
Autores principales: Felker, Stephanie A, Lawlor, James MJ, 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 CE, Kelly, Melissa A, Nakouzi, Ghunwa, Hendon, Laura G, Bebin, E Martina, Kenny, Eimear E, Cooper, Gregory M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882217/
https://www.ncbi.nlm.nih.gov/pubmed/36711854
http://dx.doi.org/10.1101/2023.01.12.523654

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