Long-read genome sequencing identifies causal structural variation in a Mendelian disease Running title: Long-read WGS identifies causal SV in a Mendelian disease

摘要

PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine if LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.