Ulrich A. Schatz

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.