Nucleic Acids Research · 2023 · 734 citations · 36 references
Life SciencesBioinformaticsBiologyComparative GenomicsGenomicsPhylogeneticsBiodiversityGenome AnnotationPan-genome AnalysisComparative Data AnalysisComparative Genome AnnotationGenomic Resource DevelopmentPan-genome AnnotationReference Genome AnnotationReference Genome CurationReference-based AnnotationVariant Effect Prediction
Ensembl (https://www.ensembl.org) is a freely available genomic resource that has produced high-quality annotations, tools, and services for vertebrates and model organisms for more than two decades. In recent years, there has been a dramatic shift in the genomic landscape, with a large increase in the number and phylogenetic breadth of high-quality reference genomes, alongside major advances in the pan-genome representations of higher species. In order to support these efforts and accelerate downstream research, Ensembl continues to focus on scaling for the rapid annotation of new genome assemblies, developing new methods for comparative analysis, and expanding the depth and quality of our genome annotations. This year we have continued our expansion to support global biodiversity research, doubling the number of annotated genomes we support on our Rapid Release site to over 1700, driven by our close collaboration with biodiversity projects such as Darwin Tree of Life. We have also strengthened support for key agricultural species, including the first regulatory builds for farmed animals, and have updated key tools and resources that support the global scientific community, notably the Ensembl Variant Effect Predictor. Ensembl data, software, and tools are freely available.
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The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text
ClinVar: improving access to variant interpretations and supporting evidence
Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text
Towards complete and error-free genome assemblies of all vertebrate species
Arang Rhie, Shane McCarthy, Olivier Fédrigo et al. · Nature · 2021 · 3.1K citations · Full text
Life Sciences, Biology, Genetics +17
Kevin Howe, Premanand Achuthan, James E. Allen et al. · Nucleic Acids Research · 2020 · 1.8K citations · Full text