4.8 Article

GENCODE reference annotation for the human and mouse genomes

Journal

NUCLEIC ACIDS RESEARCH
Volume 47, Issue D1, Pages D766-D773

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/nar/gky955

Keywords

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Funding

  1. National Human Genome Research Institute of the National Institutes of Health [U41HG007234]
  2. Wellcome Trust [WT108749/Z/15/Z, WT200990/Z/16/Z]
  3. European Molecular Biology Laboratory
  4. Swiss National Science Foundation through the National Center of Competence in Research 'RNA Disease'
  5. Medical Faculty of the University of Bern
  6. National Institutes of Health
  7. BBSRC [BB/I025360/1] Funding Source: UKRI

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The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data informing both genome biology and clinical genomics. Over the last 15 years, the GENCODE consortium has been producing reference quality gene annotations to provide this foundational resource. The GENCODE consortium includes both experimental and computational biology groups who work together to improve and extend the GENCODE gene annotation. Specifically, we generate primary data, create bioinformatics tools and provide analysis to support the work of expert manual gene annotators and automated gene annotation pipelines. In addition, manual and computational annotation workflows use any and all publicly available data and analysis, along with the research literature to identify and characterise gene loci to the highest standard. GENCODE gene annotations are accessible via the Ensembl and UCSC Genome Browsers, the Ensembl FTP site, Ensembl Biomart, Ensembl Perl and REST APIs as well as https://www.gencodegenes.org.

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