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1.
Nucleic Acids Res ; 51(D1): D933-D941, 2023 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-36318249

RESUMEN

Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly available genome data and the downstream research and applications that utilise the Ensembl platform. In recent years we have witnessed a dramatic shift in the genomic landscape. There has been a large increase in the number of high-quality reference genomes through global biodiversity initiatives. In parallel, there have been major advances towards pangenome representations of higher species, where many alternative genome assemblies representing different breeds, cultivars, strains and haplotypes are now available. In order to support these efforts and accelerate downstream research, it is our goal at Ensembl to create high-quality annotations, tools and services for species across the tree of life. Here, we report our resources for popular reference genomes, the dramatic growth of our annotations (including haplotypes from the first human pangenome graphs), updates to the Ensembl Variant Effect Predictor (VEP), interactive protein structure predictions from AlphaFold DB, and the beta release of our new website.


Asunto(s)
Bases de Datos Genéticas , Programas Informáticos , Animales , Humanos , Anotación de Secuencia Molecular , Genómica , Genoma
2.
Nucleic Acids Res ; 50(D1): D988-D995, 2022 01 07.
Artículo en Inglés | MEDLINE | ID: mdl-34791404

RESUMEN

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.


Asunto(s)
Bases de Datos Genéticas , Genoma/genética , Anotación de Secuencia Molecular , Programas Informáticos , Animales , Biología Computacional/clasificación , Humanos
3.
Nucleic Acids Res ; 49(D1): D884-D891, 2021 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-33137190

RESUMEN

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.


Asunto(s)
Biología Computacional/métodos , Bases de Datos de Ácidos Nucleicos , Genómica/métodos , SARS-CoV-2/genética , Vertebrados/genética , Animales , COVID-19/epidemiología , COVID-19/virología , Humanos , Internet , Anotación de Secuencia Molecular/métodos , Pandemias , Vertebrados/clasificación
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