Abstract

Genome-wide association studies have provided a vast array of publicly available SNP × phenotype association results. However, they are often in disparate repositories and formats, making downstream analyses difficult and time consuming. PheLiGe (https://phelige.com) is a database that provides easy access to such results via a web interface. The underlying database currently stores >75 billion genotype–phenotype associations from 7347 genome-wide and 1.2 million region-wide (e.g. cis-eQTL) association scans. The web interface allows for investigation of regional genotype-phenotype associations across many phenotypes, giving insights into the biological function affected by the variant in question. Furthermore, PheLiGe can compare regional patterns of association between different traits. This analysis can ascertain whether a co-association is due to pleiotropy or linkage. Moreover, comparison of association patterns for a complex trait of interest and gene expression and protein levels can implicate causal genes.

中文翻译：

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PheLiGe：数十亿人类基因型-表型关联的交互式数据库

摘要

全基因组关联研究提供了大量可公开获得的SNP×表型关联结果。但是，它们通常位于不同的存储库和格式中，这使得下游分析困难且耗时。PheLiGe（https://phelige.com）是一个数据库，可通过Web界面轻松访问此类结果。基础数据库当前存储来自7347个基因组和120万个区域（例如，顺式）的750亿个基因型-表型关联-eQTL）关联扫描。Web界面允许调查跨许多表型的区域基因型-表型关联，从而深入了解受相关变体影响的生物学功能。此外，PheLiGe可以比较不同性状之间的区域关联模式。该分析可以确定共同关联是由于多效性还是连锁性。此外，比较感兴趣的复杂性状与基因表达和蛋白质水平的关联模式可以暗示因果基因。