2026-04-29T04:09:00Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/67412024-11-29T18:25:25Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Frankish, Adam author Diekhans, Mark author Ferreira, Anne-Maud author Johnson, Rory author Jungreis, Irwin author Loveland, Jane author Mudge, Jonathan M author Sisu, Cristina author Wright, James author Armstrong, Joel author Barnes, If author Berry, Andrew author Bignell, Alexandra author Carbonell Sala, Silvia author Chrast, Jacqueline author Cunningham, Fiona author Di Domenico, Tomás author Donaldson, Sarah author Fiddes, Ian T author García Girón, Carlos author Gonzalez, Jose Manuel author Grego, Tiago author Hardy, Matthew author Hourlier, Thibaut author Hunt, Toby author Izuogu, Osagie G author Lagarde, Julien author Martin, Fergal J author Martínez, Laura author Mohanan, Shamika author Muir, Paul author Navarro, Fabio C P author Parker, Anne author Pei, Baikang author Pozo, Fernando author Ruffier, Magali author Schmitt, Bianca M author Stapleton, Eloise author Suner, Marie-Marthe author Sycheva, Irina author Uszczynska-Ratajczak, Barbara author Xu, Jinuri author Yates, Andrew author Zerbino, Daniel author Zhang, Yan author Aken, Bronwen author Choudhary, Jyoti S author Gerstein, Mark author Guigó, Roderic author Hubbard, Tim J P author Kellis, Manolis author Paten, Benedict author Reymond, Alexandre author Tress, Michael author Flicek, Paul funder NIH - National Human Genome Research Institute (NHGRI) (Estados Unidos) funder Wellcome Trust funder Swiss National Science Foundation 2018-11-29T11:41:12Z 2018-11-29T11:41:12Z 2018-10-24 Nucleic Acids Res. 2018 0305-1048 http://hdl.handle.net/20.500.12105/6741 30357393 10.1093/nar/gky955 1362-4962 Nucleic acids research 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. eng GENCODE reference annotation for the human and mouse genomes journal article 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 URL https://repisalud.isciii.es/bitstreams/a5e40463-08d2-488b-a1e0-69e99cceaa03/download File MD5 71eb6295d80d1c2659149871a25febc5 1131075 application/pdf GENCODEreferenceannotation_2018.pdf URL https://repisalud.isciii.es/bitstreams/64c8164a-05ac-4415-8151-67ac3c3a1f5e/download File MD5 6f7b54fd6aad44274a3162b5581617dd 44534 text/plain GENCODEreferenceannotation_2018.pdf.txt