Ensembl公司
注释
生物
基因组计划
基因组
基因组浏览器
基因注释
计算生物学
基因组学
人类基因组
基因
遗传学
作者
Adam Frankish,Mark Diekhans,Irwin Jungreis,Julien Lagarde,Jane Loveland,Jonathan M. Mudge,Cristina Sisu,James C. Wright,Joel Armstrong,If Barnes,Andrew Berry,Alexandra Bignell,Carles A. Boix,Sílvia Carbonell Sala,Fiona Cunningham,Tomás Di Domenico,Sarah Donaldson,Ian T. Fiddes,Carlos García Girón,José M. González
摘要
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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