songlab/hg38-variant-consequences

该数据集提供了人类基因组(GRCh38/hg38)中所有可能的单核苷酸变异(SNVs)的预计算VEP后果，并附有ENCODE SCREEN的顺式调控元件(CRE)注释。对于非外显子变异(如基因间、内含子、基因上游/下游变异)，数据集中的`consequence_cre`列包含了基于与顺式调控元件重叠的CRE类别。数据集还包括了VEP容器和标志的详细信息、CRE注释的分类和优先级规则、数据模式描述、下载方法以及使用Polars进行查询的示例代码。

Pre-computed VEP consequences for all possible single nucleotide variants (SNVs) in the human genome (GRCh38/hg38), with cis-regulatory element (CRE) annotations from ENCODE SCREEN. For non-exonic variants (intergenic, intronic, upstream/downstream gene variants), the `consequence_cre` column contains the CRE class based on overlap with cis-regulatory elements. The dataset includes details on VEP container and flags, CRE annotation classification and priority rules, schema description, download methods, and example code for querying with Polars.