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
Topics & Concepts
ExonComputational biologyGeneticsGenetic testingMedicineBioinformaticsBiologyGeneGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesHereditary Neurological Disorders