Nucleic Acids Research · 2020 · 1.8K citations · 41 references
Life SciencesBioinformaticsGeneticsComparative GenomicsGenome EvolutionGenomicsGenome SequencingGenomic Data IntegrationGenomic Data VisualizationGenomic DatabasesGenomics IntegrationNext-generation SequencingComparative Genomic Data IntegrationGenome Annotation DatabasesGenome Annotation PipelinesGenome Browser InfrastructureGenomic Data SharingReference Genome DatabasesSearch InterfacesVariant Effect Prediction
The Ensembl project (https://www.ensembl.org) annotates genomes and disseminates genomic data for vertebrate species. We create detailed and comprehensive annotation of gene structures, regulatory elements and variants, and enable comparative genomics by inferring the evolutionary history of genes and genomes. Our integrated genomic data are made available in a variety of ways, including genome browsers, search interfaces, specialist tools such as the Ensembl Variant Effect Predictor, download files and programmatic interfaces. Here, we present recent Ensembl developments including two new website portals. Ensembl Rapid Release (http://rapid.ensembl.org) is designed to provide core tools and services for genomes as soon as possible and has been deployed to support large biodiversity sequencing projects. Our SARS-CoV-2 genome browser (https://covid-19.ensembl.org) integrates our own annotation with publicly available genomic data from numerous sources to facilitate the use of genomics in the international scientific response to the COVID-19 pandemic. We also report on other updates to our annotation resources, tools and services. All Ensembl data and software are freely available without restriction.
41
Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text
An integrated encyclopedia of DNA elements in the human genome
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text
InterProScan 5: genome-scale protein function classification
Philip Jones, David Binns, Hsin-Yu Chang et al. · Bioinformatics · 2014 · 10K citations · Full text
Life Sciences, Bioinformatics, High-performance Computing +8