GENCODE Resource Project

资源项目-项目摘要 对人类基因的位置、结构和表达的全面了解。 基因组是理解人类生物学和疾病机制的核心。 同样，对于小鼠，全面的高质量基因集将有助于实验设计， 以及对基因敲除和由此产生的表型的影响的解释，并作为一种 人类疾病模型将有助于了解人类基因功能。GENCODE财团已 组建了一个与基因注释相关的各个领域的世界专家团队， 分配这个黄金标准。GENCODE的广泛专业知识涵盖基因和转录异构体 鉴定、假基因进化、序列保守、基因表达、蛋白质组学和 翻译后修饰，基因调控元件， 大规模创建基因组注释所需的基础设施， 参与和领导力。完整准确地诠释了人与鼠 基因组是必要的，因为许多蛋白质编码基因仍然不完整， 错误注释。GENCODE还旨在包括所有非蛋白质编码基因， 对它的了解很少，许多位点仍然缺失。除了编码基因和非编码基因， GENCODE创建了参考假基因注释，因为最近的研究表明， 假基因可以发挥关键的调节作用。完成完整的第一遍手册 因此，参考小鼠基因组组装的注释将是主要的注释之一。 GENCODE的目标。基因组参考联盟（GRC）正在努力， 扩大参考人类基因组的定义，以包括所有人的基因组序列。 单倍型和基因等位基因。GRC已经承诺支持一种 收集了16个代表性小鼠品系，从而有效地用 16个独立的单倍型的“图形样”结构。GENCODE已注释完整参考 人和小鼠的基因组，包括所有可用的替代序列。GENCODE将 继续为这些新的基因组序列提供适当的注释。除了 基因组突变损害基因产物功能，导致许多表型，或 由基因产物调节调节。因此，GENCODE的完整注释 所有转录物同种型逻辑上包括关键的调节区域，其基本上是 每个基因和GENCODE将引导这些组织特异性区域的注释。

RESOURCE PROJECT - PROJECT SUMMARY A comprehensive knowledge of the location, structure, and expression of genes in the human genome is central to the understanding of human biology and the mechanisms of disease. Similarly for mouse, a comprehensive high quality gene set will aid in the design of experiments, and the interpretation of the effects of gene knockouts and resulting phenotypes, and as a model for human disease will help inform human gene function. The GENCODE consortium has assembled a team of world experts in a variety of fields related to gene annotation to create and distribute this gold standard. GENCODE's wide expertise covers gene and transcript isoform identification, pseudogene evolution, sequence conservation, gene expression, proteomics and post-translational modifications, gene regulatory elements, development and maintenance of the infrastructure required to create genome annotation at scale, and demonstrated community engagement and leadership. The complete and accurate annotation of the human and mouse genomes is necessary as many of the protein-coding genes are still incomplete or misannotated. GENCODE also aims to include all non-protein-coding genes which remain poorly understood with many loci still missing. Beyond the coding and non-coding genes, GENCODE creates reference pseudogene annotation as recent studies indicate that pseudogenes can play key regulatory roles. The completion of the full first-pass manual annotation of the reference mouse genome assembly will therefore be one of the main objectives of GENCODE. Efforts are underway in the Genome Reference Consortium (GRC) to expand the definition of the reference human genome to include genomic sequence for all haplotypes and gene alleles. GRC have already committed to supporting the genomes of a collection of 16 representative mice strains, thus effectively replacing the linear genome with a “graph-like” structure of 16 separate haplotypes. GENCODE already annotate the full reference genome for human and mouse, including all available alternate sequences. GENCODE will continue to provide annotation appropriate to these new genomic sequences. In addition to genomic mutations that impair gene product function, many phenotypes are caused or moderated by the regulation of gene products. Therefore, GENCODE's complete annotation of all transcript isoforms logically includes key regulatory regions that are fundamentally a part of each gene and GENCODE will pilot the annotation of these tissue-specific regions.