Irina M. Armean

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: Recent Ensembl developments are presented including two new website portals, which are designed to provide core tools and services for genomes as soon as possible and has been deployed to support large biodiversity sequencing projects.

TL;DR: In response to the growing data volume and user requests, IntAct now provides a two-tiered view of the interaction data, which allows the user to iteratively develop complex queries, exploiting the detailed annotation with hierarchical controlled vocabularies.

TL;DR: This paper provides an update to the previous publications about the Ensembl Genomes, with a focus on recent developments, including the development of new analyses and views to represent polyploid genomes and the continued up-scaling of the resource.