Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Watson, CM; Jackson, L; Crinnion, LA; Bonthron, DT; Sheridan, E

Watson, CM (通讯作者),Leeds Teaching Hosp NHS Trust, Leeds, W Yorkshire, England.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (11): 1082

Abstract

Background The ever-increasing capacity of short-read sequencing instruments is driving the adoption of whole genome sequencing (WGS) as a universal a......

Full Text Link