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Human Genome Annotation (Invited Keynote Talk)

机译：人类基因组注释（特邀主题演讲）

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A central problem for 21st century science is annotating the human genome and making this annotation useful for the interpretation of personal genomes. My talk will focus on annotating the 99% of the genome that does not code for canonical genes, concentrating on intergenic features such as structural variants (SVs), pseudogenes (protein fossils), binding sites, and novel transcribed RNAs (ncRNAs). In particular, I will describe how we identify regulatory sites and variable blocks (SVs) based on processing next-generation sequencing experiments. I will further explain how we cluster together groups of sites to create larger annotations. Next, I will discuss a comprehensive pseudogene identification pipeline, which has enabled us to identify >10K pseudogenes in the genome and analyze their distribution with respect to age, protein family, and chromosomal location. Throughout, I will try to introduce some of the computational algorithms and approaches that are required for genome annotation. Much of this work has been carried out in the framework of the ENCODE, modENCODE, and 1000 genomes projects.
机译：21世纪科学的中心问题是注释人类基因组，并使该注释对个人基因组的解释有用。我的演讲将集中于注释不编码规范基因的99％基因组，着重介绍诸如结构变异（SV），假基因（蛋白质化石），结合位点和新型转录RNA（ncRNA）等基因间特征。特别是，我将描述我们如何基于处理下一代测序实验来确定调控位点和可变区（SV）。我将进一步说明我们如何将网站群聚在一起以创建更大的注释。接下来，我将讨论一个全面的假基因鉴定流程，这使我们能够鉴定基因组中的> 10K个假基因，并分析它们在年龄，蛋白质家族和染色体位置方面的分布。在整个过程中，我将尝试介绍一些基因组注释所需的计算算法和方法。这项工作大部分是在ENCODE，modENCODE和1000个基因组计划的框架内进行的。

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