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

Bibliographic Details
Title: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Authors: 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.
Source: In Genetics in Medicine August 2023 25(8)
Database: ScienceDirect
More Details
ISSN:10983600
DOI:10.1016/j.gim.2023.100884
Published in:Genetics in Medicine
Language:English