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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 Nakouzi, Laura G. Hendon, E. Martina Bebin, Eimear E. Kenny, Gregory M. Cooper

2023Genetics in Medicine18 citationsDOIOpen Access PDF

Topics & Concepts

ExonComputational biologyGeneticsGenetic testingMedicineBioinformaticsBiologyGeneGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesHereditary Neurological Disorders
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing | Litcius