GENCODE 2021.

GENCODE 2021.
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DOI:
10.1093/nar/gkaa1087
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发表时间:
2021-01-08
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;Jungreis I;Lagarde J;Loveland JE;Mudge JM;Sisu C;Wright JC;Armstrong J;Barnes I;Berry A;Bignell A;Boix C;Carbonell Sala S;Cunningham F;Di Domenico T;Donaldson S;Fiddes IT;García Girón C;Gonzalez JM;Grego T;Hardy M;Hourlier T;Howe KL;Hunt T;Izuogu OG;Johnson R;Martin FJ;Martínez L;Mohanan S;Muir P;Navarro FCP;Parker A;Pei B;Pozo F;Riera FC;Ruffier M;Schmitt BM;Stapleton E;Suner MM;Sycheva I;Uszczynska-Ratajczak B;Wolf MY;Xu J;Yang YT;Yates A;Zerbino D;Zhang Y;Choudhary JS;Gerstein M;Guigó R;Hubbard TJP;Kellis M;Paten B;Tress ML;Flicek P

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GENCODE项目以高准确度注释实验数据支持的人类和小鼠基因和转录本,为支持基因组生物学和临床基因组学提供基础资源。GENCODE注释过程利用联盟内部和外部生成的原始数据和生物信息学工具以及分析来支持转录本结构的创建和其功能的确定。在这里,我们介绍了我们的注释基础设施,生物信息学工具和分析的改进,以及它们在人类和小鼠基因组注释中的进展,包括:完成小鼠参考基因组的首次人工注释;对SARS-CoV-2感染相关基因注释的有针对性的改进;合作项目,以实现跨参考注释数据库的融合,用于注释人类和小鼠蛋白质编码基因;以及第一个GENCODE人工监督的lncRNA自动注释。我们的注释可通过Ensembl,UCSC基因组浏览器和https://www.gencodegenes.org访问。
The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource that supports genome biology and clinical genomics. GENCODE annotation processes make use of primary data and bioinformatic tools and analysis generated both within the consortium and externally to support the creation of transcript structures and the determination of their function. Here, we present improvements to our annotation infrastructure, bioinformatics tools, and analysis, and the advances they support in the annotation of the human and mouse genomes including: the completion of first pass manual annotation for the mouse reference genome; targeted improvements to the annotation of genes associated with SARS-CoV-2 infection; collaborative projects to achieve convergence across reference annotation databases for the annotation of human and mouse protein-coding genes; and the first GENCODE manually supervised automated annotation of lncRNAs. Our annotation is accessible via Ensembl, the UCSC Genome Browser and https://www.gencodegenes.org.
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