GENCODE reference annotation for the human and mouse genomes

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.We thank Tim Hubbard and Jennifer Harrow for their leadership in the GENCODE project from 2003-2016 as well as all groups and group members involved in the GENCODE project since its inception including the HAVANA manual annotation group formerly at Wellcome Sanger Institute now at EMBL-EBI (founder), the Guigo group at Centre for Genomic Regulation (founder), the Gerstein group at Yale (founder), the Center for Biomolecular Science & Engineering at UCSC (founder), the Ensembl team at EMBL-EBI (joined 2007), the Kellis group at MIT (joined 2007), the Tress group at CNIO (joined 2007), the Choudhary group formerly at Wellcome Sanger Institute now at Institute of Cancer Research (joined 2012), the Reymond group at University of Lausanne (2003–2017), the Antonarakis group at University of Geneva (2003–2007), the Wei group at Genome Institute of Singapore (2003–2007), the Gingeras group at Affymetrix Ltd (2003–2007) and the Brent group at Washington University in St. Louis (2007–2012).S