Daniel G. MacArthur

TL;DR: A new benchmark dataset is derived from the de novo PacBio assemblies of two human cell lines that are homozygous across the whole genome that provides a more accurate and less biased estimate of the error rate of small variant calls in a realistic context.

TL;DR: The expression modifier score (EMS) is presented, a predicted probability that a variant has a cis-regulatory effect on gene expression, trained on fine-mapped eQTLs and leveraging 6,121 features including epigenetic marks and sequence-based neural network predictions.

TL;DR: This study is a cautionary reminder that in families with two generations affected, explanations other than dominant inheritance are possible, such as recessive inheritance due to three mutations segregating in the family, and emphasises the advantages of next-generation sequencing approaches that screen multiple CMT genes at once for patients in whom the common genes have been excluded.

TL;DR: A distinct phenotype is described for patients with distal myopathy associated with novel recessive TTN variants including a Serbian founder variant, which will facilitate the diagnosis of this condition in patients of Serbian origin.

TL;DR: The results demonstrate the value of large-scale genomic databases and phenotyping of human LoF carriers for target validation in drug discovery and suggest that therapeutics that partially downregulate LRRK2 levels or kinase activity are unlikely to have major on-target safety liabilities.