OMICs AND AI APPROACHES FOR MUSCLE DISEASES

Molecular genetic analysis of large genes is demanding although high-throughput sequencing (HTS) has facilitated the task immensely. Ultra-rare or novel missense variants in large genes such as nebulin and titin are very common in the general population, which makes variant interpretation difficult in sporadic cases. The interpretation of rare heterozygous variants is especially difficult when samples from family members are lacking and thus, segregation analysis is not possible. Short-read HTS collapses a diploid genome to a single sequence, but the linked-read technology provides phase information of continuous DNA fragments and resolves the haplotypes of patients.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: J. Lehtonen, M. Johari, H. Almusa, A. Lehesjoki, K. Wartiovaara, J. Saarela, P. Hackman, C. Wallgren-Pettersson, B. Udd, V. Lehtokari, K. Pelin, M. Savarese Source Type: research