GENCODE reference annotation for the human and mouse genomes.

GENCODE reference annotation for the human and mouse genomes.
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DOI:
10.1093/nar/gky955
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发表时间:
2019-01-08
影响因子:
14.9
通讯作者:
Flicek P
Flicek P
中科院分区:
生物学2区
文献类型:
--
作者:
Frankish A;Diekhans M;Ferreira AM;Johnson R;Jungreis I;Loveland J;Mudge JM;Sisu C;Wright J;Armstrong J;Barnes I;Berry A;Bignell A;Carbonell Sala S;Chrast J;Cunningham F;Di Domenico T;Donaldson S;Fiddes IT;García Girón C;Gonzalez JM;Grego T;Hardy M;Hourlier T;Hunt T;Izuogu OG;Lagarde J;Martin FJ;Martínez L;Mohanan S;Muir P;Navarro FCP;Parker A;Pei B;Pozo F;Ruffier M;Schmitt BM;Stapleton E;Suner MM;Sycheva I;Uszczynska-Ratajczak B;Xu J;Yates A;Zerbino D;Zhang Y;Aken B;Choudhary JS;Gerstein M;Guigó R;Hubbard TJP;Kellis M;Paten B;Reymond A;Tress ML;Flicek P

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准确识别和描述人类和小鼠基因组中的基因是高质量分析基因组生物学和临床基因组学数据的基本要求。在过去的15年里,GENCODE联盟一直在生产参考质量的基因注释,以提供这一基础资源。GENCODE联盟包括实验和计算生物学小组,他们共同努力改进和扩展GENCODE基因注释。具体来说,我们生成原始数据,创建生物信息学工具,并提供分析,以支持专家手动基因注释器和自动基因注释管道的工作。此外,手动和计算注释工作流程使用任何和所有公开可用的数据和分析,沿着研究文献,以最高标准鉴定和标记基因座。GENCODE基因注释可通过Ensembl和UCSC基因组浏览器、Ensembl FTP站点、Ensembl Biomart、Ensembl Perl和REST API以及https://www.gencodegenes.org访问。
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.
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