Article
Targeted long-read sequencing identifies missing disease-causing variation.
American journal of human genetics - 5 Aug 2021
Miller Danny E, Sulovari Arvis, Wang Tianyun, Loucks Hailey, Hoekzema Kendra, Munson Katherine M, Lewis Alexandra P, Fuerte Edith P Almanza, Paschal Catherine R, Walsh Tom, Thies Jenny, Bennett James T, Glass Ian, Dipple Katrina M, Patterson Karynne, Bonkowski Emily S, Nelson Zoe, Squire Audrey, Sikes Megan, Beckman Erika, Bennett Robin L, Earl Dawn, Lee Winston, Allikmets Rando, Perlman Seth J, Chow Penny, Hing Anne V, Wenger Tara L, Adam Margaret P, Sun Angela, Lam Christina, Chang Irene, Zou Xue, Austin Stephanie L, Huggins Erin, Safi Alexias, Iyengar Apoorva K, Reddy Timothy E, Majoros William H, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, King Mary-Claire, Cherry Tim, Chong Jessica X, Bamshad Michael J, Nickerson Deborah A, Mefford Heather C, Doherty Dan, Eichler Evan E
Abstract excerpt
Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of-the-art treatments. In some cases, testing reveals difficult-to-evaluate structural differences, candidate variants that do not fully explain the phenotype, single pathogenic variants in recessive disorders, or no variants in genes of...
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