GENCODE reference annotation for the human and mouse genomes

A Frankish, M Diekhans, AM Ferreira… - Nucleic acids …, 2019 - academic.oup.com
Nucleic acids research, 2019academic.oup.com
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 …
Abstract
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.
Oxford University Press