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Ensembl 2022.

Ensembl 2022.

机构信息

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

出版信息

Nucleic Acids Res. 2022 Jan 7;50(D1):D988-D995. doi: 10.1093/nar/gkab1049.

Abstract

Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive annotation for key species. Genomes representing a greater diversity of species are increasingly being sequenced. In response, we have focussed our recent efforts on expediting the annotation of new assemblies. Here, we report the release of the greatest annual number of newly annotated genomes in the history of Ensembl via our dedicated Ensembl Rapid Release platform (http://rapid.ensembl.org). We have also developed a new method to generate comparative analyses at scale for these assemblies and, for the first time, we have annotated non-vertebrate eukaryotes. Meanwhile, we continually improve, extend and update the annotation for our high-value reference vertebrate genomes and report the details here. We have a range of specific software tools for specific tasks, such as the Ensembl Variant Effect Predictor (VEP) and the newly developed interface for the Variant Recoder. All Ensembl data, software and tools are freely available for download and are accessible programmatically.

摘要

Ensembl(https://www.ensembl.org)在访问基因组数据和注释的灵活架构方面独具特色。它旨在为所有真核生物高效提供大规模注释,并为关键物种提供深度综合注释。代表更多物种多样性的基因组正越来越多地被测序。为此,我们最近集中精力加快新组装的注释。在这里,我们通过专门的 Ensembl Rapid Release 平台(http://rapid.ensembl.org)报告了 Ensembl 历史上每年发布的最多新注释基因组。我们还开发了一种新方法,可大规模生成这些组装的比较分析,并且首次对非脊椎动物真核生物进行了注释。同时,我们不断改进、扩展和更新我们高价值参考脊椎动物基因组的注释,并在此处报告详细信息。我们有一系列特定的软件工具用于特定任务,例如 Ensembl Variant Effect Predictor(VEP)和新开发的 Variant Recoder 接口。所有 Ensembl 数据、软件和工具均可免费下载,并且可通过编程访问。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f715/8728283/55a64d6a6ce4/gkab1049fig1.jpg

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