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菲立格:数十亿人类基因型-表型关联的交互式数据库。

PheLiGe: an interactive database of billions of human genotype-phenotype associations.

机构信息

Theoretical and Applied Functional Genomics Laboratory, Novosibirsk State University, Novosibirsk 630090, Russia.

Department of Molecular and Biological physics, Moscow Institute of Physics and Technology (State University), Moscow 117303, Russia.

出版信息

Nucleic Acids Res. 2021 Jan 8;49(D1):D1347-D1350. doi: 10.1093/nar/gkaa1086.

DOI:10.1093/nar/gkaa1086
PMID:33245779
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7779071/
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.

摘要

全基因组关联研究提供了大量公开可用的 SNP 与表型关联结果。然而,它们通常存储在不同的存储库和格式中,使得下游分析变得困难且耗时。PheLiGe(https://phelige.com)是一个数据库,通过网络界面提供了方便访问这些结果的途径。目前,基础数据库存储了来自 7347 项全基因组和 1200 万区域范围(例如 cis-eQTL)关联扫描的超过 750 亿个基因型-表型关联。网络界面允许研究许多表型的区域基因型-表型关联,深入了解受研究变异影响的生物学功能。此外,PheLiGe 可以比较不同性状之间的区域关联模式。这种分析可以确定共同关联是由于多效性还是连锁。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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d65a/7779071/ba5684222e14/gkaa1086fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d65a/7779071/8a84bea02be3/gkaa1086fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d65a/7779071/ba5684222e14/gkaa1086fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d65a/7779071/8a84bea02be3/gkaa1086fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d65a/7779071/ba5684222e14/gkaa1086fig2.jpg

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