4.8 Article

GENCODE 2021

Journal

NUCLEIC ACIDS RESEARCH
Volume 49, Issue D1, Pages D916-D923

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/nar/gkaa1087

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 GENCODE project annotates human and mouse genes and transcripts with high accuracy, using experimental data and bioinformatic tools, and continues to improve annotation infrastructure and tools for the human and mouse genomes. This includes manual annotation for the mouse reference genome, targeted improvements for SARS-CoV-2 related genes, collaborative projects for reference annotation databases, and the first GENCODE supervised automated annotation of lncRNAs.
The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource that supports genome biology and clinical genomics. GENCODE annotation processes make use of primary data and bioinformatic tools and analysis generated both within the consortium and externally to support the creation of transcript structures and the determination of their function. Here, we present improvements to our annotation infrastructure, bioinformatics tools, and analysis, and the advances they support in the annotation of the human and mouse genomes including: the completion of first pass manual annotation for the mouse reference genome; targeted improvements to the annotation of genes associated with SARS-CoV-2 infection; collaborative projects to achieve convergence across reference annotation databases for the annotation of human and mouse protein-coding genes; and the first GENCODE manually supervised automated annotation of lncRNAs.

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