Eleanor G. Seaby

TL;DR: A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

TL;DR: Using an improved human mutation rate model, human protein-coding genes are classified along a spectrum representing tolerance to inactivation, validate this classification using data from model organisms and engineered human cells, and show that it can be used to improve gene discovery power for both common and rare diseases.

TL;DR: In this article, the authors performed an international observational cohort study of clinical and outcome data regarding suspected multisystem inflammatory syndrome (MIS-C) that had been uploaded by physicians onto a Web-based database.

TL;DR: It is shown that collagen IV mutations, including COL4A5, frequently underlie FSGS and should be considered, particularly with a positive family history, as well as in patients with a history of renal disease.

TL;DR: A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.