Daniel G. MacArthur

TL;DR: A transcript-level annotation metric, the proportion expressed across transcripts (pext), which summarizes isoform quantifications for variants, is developed, which clearly differentiates between weakly and highly evolutionarily conserved exons, a proxy for functional importance.

TL;DR: Mendelian disease genomic research has undergone a massive transformation over the last decade as discussed by the authors, and the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.

TL;DR: In this article, the authors describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnosis, and use remnant normal DMD splicing in 3 families to define critical levels of wild-type dystrophicin bridging clinical spectrums of Duchenne to myalgia.

TL;DR: The advantage of using whole exome sequencing as a tool for detecting, diagnosing and treating patients with rare, clinically variable genetic disorders is highlighted.

TL;DR: The first cohort of patients with LGMD2N is described and it is shown that unlike other LGMD types, all patients had cognitive impairment, and the mutational spectrum is expanded, with the description of 11 novel POMT2 mutations in the association with LG MD2N.