P.295Linked-read whole genome sequencing in patients with congenital myopathy

In this study, we wanted to test whether a new NGS application — the Linked-Read (LR) library preparation — can improve the identification of disease-causing variants in patients with congenital myopathy. For LR library preparation, gDNA molecules are encapsulated inside emulsion droplets.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: J. Lehtonen, V. Lehtokari, H. Almusa, A. Sulonen, J. Saarela, C. Wallgren-Pettersson, K. Pelin Source Type: research