GENCODE reference annotation for the human and mouse genomes.

Frankish, Adam; Diekhans, Mark; Ferreira, Anne-Maud; Johnson, Rory Baldwin; Jungreis, Irwin; Loveland, Jane; Mudge, Jonathan M; Sisu, Cristina; Wright, James; Armstrong, Joel; Barnes, If; Berry, Andrew; Bignell, Alexandra; Carbonell Sala, Silvia; Chrast, Jacqueline; Cunningham, Fiona; Di Domenico, Tomás; Donaldson, Sarah; Fiddes, Ian T; García Girón, Carlos; ... (2019). GENCODE reference annotation for the human and mouse genomes. Nucleic acids research, 47(D1), D766-D773. Oxford University Press 10.1093/nar/gky955

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Medical Oncology

UniBE Contributor:

Johnson, Rory Baldwin

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0305-1048

Publisher:

Oxford University Press

Language:

English

Submitter:

Rebeka Gerber

Date Deposited:

14 Feb 2019 07:12

Last Modified:

14 Feb 2019 07:12

Publisher DOI:

10.1093/nar/gky955

PubMed ID:

30357393

BORIS DOI:

10.7892/boris.124813

URI:

https://boris.unibe.ch/id/eprint/124813

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