School of Computing Science, Simon Fraser University, Burnaby, Canada.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
Genome Biol. 2019 Aug 28;20(1):180. doi: 10.1186/s13059-019-1784-2.
Semi-automated genome annotation methods such as Segway take as input a set of genome-wide measurements such as of histone modification or DNA accessibility and output an annotation of genomic activity in the target cell type. Here we present annotations of 164 human cell types using 1615 data sets. To produce these annotations, we automated the label interpretation step to produce a fully automated annotation strategy. Using these annotations, we developed a measure of the importance of each genomic position called the "conservation-associated activity score." We further combined all annotations into a single, cell type-agnostic encyclopedia that catalogs all human regulatory elements.
半自动化的基因组注释方法，如 Segway，以一组全基因组测量值（如组蛋白修饰或 DNA 可及性）作为输入，并输出目标细胞类型中基因组活性的注释。在这里，我们使用 1615 个数据集对 164 个人类细胞类型进行了注释。为了生成这些注释，我们自动化了标签解释步骤，从而产生了一种完全自动化的注释策略。使用这些注释，我们开发了一种称为“与保守性相关的活性评分”的基因组位置重要性度量标准。我们进一步将所有注释组合成一个单一的、与细胞类型无关的百科全书，其中包含了所有人类调控元件。
