Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Rhett G. Marchant,
Samantha J. Bryen,
Melanie Bahlo
et al.
Abstract:ObjectiveMost families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their integration into practice.MethodsIn total, 247 families with suspected monogenic neuromuscular disorders who remained without a genetic diagnosis after standard diagnostic investigations underwent research‐led massively parallel sequencing: neuromuscular disorder gene pan… Show more
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