PRISM full results: Predicted and labeled variant-trait effects
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PRISM predicted significant genetic variant effects in a framework of 61 heritable traits from UK Biobank. Significant variant-trait effects are labeled with confounder pleiotropy, vertical pleiotropy, or direct effect. Each line of the file represents a variant-trait effect, so a genetic variant may appear on multiple lines. Columns description:variant_hg19: Genomic variant coordinates (CHR:POS:REF:ALT) in the hg19/GRCh37 genome reference build.rsid: rsID number of the genetic variant.Pval_PRISM: P-value of the variant-trait effect computed by PRISM.FullPleio: Pleiotropy of the variant predicted by PRISM, indicating "Direct Effect" for direct effects; For vertical effects, indicates V:Trait1:Trait2:etc, with Trait1/Trait2/etc traits with vertical effect on the main trait through this variant; For confounder effects, indicates U:Trait1:Trait2:etc, with Trait1/Trait2/etc traits sharing a confounder with the main trait through this variant. SynthPleio: Summary of the pleiotropy of the variant, simply describing the type of pleiotropy.Pval_GWASUKBB: Original p-value of the variant-trait association from UKBB GWAS summary statistics of the main trait.Trait_UKBB: Main trait affected by the variant effect, represented by the UKBB trait code.TraitName_UKBB: Main trait affected by the variant effect, represented by the UKBB trait name. Please refer to the manuscript and github for further information:https://www.medrxiv.org/content/10.1101/2024.06.01.24308193https://github.com/martintnr/PRISM v2: updated nomenclature.
本数据集通过PRISM方法,在英国生物库(UK Biobank)的61个可遗传性状框架内预测了具有统计学显著性的遗传变异效应。其中,显著的变异-性状效应被标注为混杂多效性(confounder pleiotropy)、垂直多效性(vertical pleiotropy)或直接效应(direct effect)。该数据文件的每一行对应一个变异-性状效应条目,因此单个遗传变异可能会出现在多条记录中。 字段说明如下: variant_hg19:hg19/GRCh37基因组参考版本下的基因组变异坐标,格式为「染色体号:位置:参考等位基因:替代等位基因(CHR:POS:REF:ALT)」。 rsid:该遗传变异的rsID编号。 Pval_PRISM:通过PRISM计算得到的变异-性状效应的P值。 FullPleio:PRISM预测的该变异的多效性详情:若为直接效应,则标注为"Direct Effect";若为垂直多效效应,格式为V:性状1:性状2:……,其中性状1/性状2等为通过该变异对目标性状产生垂直多效影响的相关性状;若为混杂多效效应,格式为U:性状1:性状2:……,其中性状1/性状2等为与目标性状通过该变异共享混杂因素的相关性状。 SynthPleio:该变异多效性的概要描述,仅简要说明多效性类型。 Pval_GWASUKBB:来自英国生物库目标性状全基因组关联研究(GWAS)汇总统计数据的变异-性状关联原始P值。 Trait_UKBB:受该变异效应影响的目标性状,以英国生物库的性状编码进行标识。 TraitName_UKBB:受该变异效应影响的目标性状,以英国生物库的性状名称进行标识。 更多详细信息请参阅相关研究手稿及GitHub开源页面:https://www.medrxiv.org/content/10.1101/2024.06.01.24308193 及 https://github.com/martintnr/PRISM v2版本:更新了命名规范。



