Moriel Singer-Berk

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: The Genome Aggregation Database (gnomAD) as discussed by the authors is the largest and most widely used publicly available collection of population variation from harmonized sequencing data, which is available through the online gnomAD browser (https://gnomad.broadinstitute.org/) that enables rapid and intuitive variant analysis.

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.

TL;DR: In this paper , a deep learning classifier was trained on 4.3 million common primate missense variants with orthologs in human to diagnose pathogenic variants in patients with genetic diseases.