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1.
Nucleic Acids Res ; 48(D1): D682-D688, 2020 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-31691826

RESUMEN

The Ensembl (https://www.ensembl.org) is a system for generating and distributing genome annotation such as genes, variation, regulation and comparative genomics across the vertebrate subphylum and key model organisms. The Ensembl annotation pipeline is capable of integrating experimental and reference data from multiple providers into a single integrated resource. Here, we present 94 newly annotated and re-annotated genomes, bringing the total number of genomes offered by Ensembl to 227. This represents the single largest expansion of the resource since its inception. We also detail our continued efforts to improve human annotation, developments in our epigenome analysis and display, a new tool for imputing causal genes from genome-wide association studies and visualisation of variation within a 3D protein model. Finally, we present information on our new website. Both software and data are made available without restriction via our website, online tools platform and programmatic interfaces (available under an Apache 2.0 license) and data updates made available four times a year.


Asunto(s)
Biología Computacional/métodos , Bases de Datos Genéticas , Epigenoma , Anotación de Secuencia Molecular , Algoritmos , Animales , Gráficos por Computador , Bases de Datos de Proteínas , Variación Genética , Estudio de Asociación del Genoma Completo , Genómica , Histonas/metabolismo , Humanos , Imagenología Tridimensional , Internet , Ligandos , Motor de Búsqueda , Programas Informáticos , Especificidad de la Especie , Transcriptoma , Interfaz Usuario-Computador , Navegador Web
2.
Nucleic Acids Res ; 47(D1): D745-D751, 2019 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-30407521

RESUMEN

The Ensembl project (https://www.ensembl.org) makes key genomic data sets available to the entire scientific community without restrictions. Ensembl seeks to be a fundamental resource driving scientific progress by creating, maintaining and updating reference genome annotation and comparative genomics resources. This year we describe our new and expanded gene, variant and comparative annotation capabilities, which led to a 50% increase in the number of vertebrate genomes we support. We have also doubled the number of available human variants and added regulatory regions for many mouse cell types and developmental stages. Our data sets and tools are available via the Ensembl website as well as a through a RESTful webservice, Perl application programming interface and as data files for download.


Asunto(s)
Bases de Datos Genéticas , Genoma/genética , Genómica , Vertebrados/genética , Animales , Biología Computacional/tendencias , Humanos , Ratones , Anotación de Secuencia Molecular , Programas Informáticos
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