Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Adriana Sedeño Cortés, Jane Ranchalis, Aimee Allworth, Austin E Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B Folta, Ian Glass, Martha Horike-Pyne, Alden Y Huang, Alyna T Khan, Kathleen A Leppig, Danny E Miller, Ghayda Mirzaa, Azma Parhin, Wendy H Raskind, Elisabeth A Rosenthal, Sam Sheppeard, Samuel Strohbehn, Virginia P Sybert, Thao T Tran, Mark H Wener, Peter H H Byers, Stanley F Nelson, Michael J Bamshad, Katrina M Dipple, Gail P Jarvik, Suzanne Hoppins, Fuki M Hisama
OBJECTIVES: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. METHODS: We applied short-read and full-length transcript sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis...
October 2023: Neurology. Genetics