library(xQTLbiolinks)
library(data.table)
library(stringr)eQTL_sig1 <- xQTLquery_eqtlSig("rs201327123")
eQTL_sig1 <- xQTLquery_eqtlSig("chr1_14677_G_A_b38")
# Query significant eQTL associations with a variant id in a specified tissue:
eQTL_sig1 <- xQTLquery_eqtlSig("chr1_14677_G_A_b38",
tissueSiteDetail="Skin - Sun Exposed (Lower leg)")eQTL_sig1varInfo <- xQTLquery_varPos(chrom="chr1", pos=c(1102708))
eQTL_sig2 <- xQTLquery_eqtlSig(variantName=varInfo$snpId)head(eQTL_sig2)eQTL_sig3 <- xQTLquery_eqtlSig(genes="ATAD3B")
eQTL_sig3 <- xQTLquery_eqtlSig(genes=c("TP53", "SLC35E2B"), tissueSiteDetail= "Brain - Cerebellum")
eQTL_sig3 <- xQTLquery_eqtlSig(genes="ENSG00000141510.16")head(eQTL_sig3)eQTL_sig4 <- xQTLquery_eqtlSig(variantName="rs1641513", genes="TP53")
eQTL_sig4 <- xQTLquery_eqtlSig(variantName="chr1_1667948_A_G_b38",
genes="SLC35E2B", tissueSiteDetail="Kidney - Cortex")eQTL_sig4Multi-tissue eQTL metasoft results for a given gene and
variant can be also queried using xQTLquery_eqtl, the
results include: m-value (mValue), normalized effect size (nes), p-value
(pValue) and standard error (se).
# Query with a gene symbol:
eqtlMeta <- xQTLquery_eqtl(gene="TP53")
# Query with a variant-gene pair:
eqtlMeta <- xQTLquery_eqtl(variantName="rs1641513",gene="TP53")head(eqtlMeta)sQTL_sig1 <- xQTLquery_sqtlSig(variantName="rs201327123")
sQTL_sig1 <- xQTLquery_sqtlSig(variantName="chr1_14677_G_A_b38", tissueSiteDetail="Whole Blood")sQTL_sig1sQTL_sig2 <- xQTLquery_sqtlSig(genes="ENSG00000141510.16", tissueSiteDetail="Lung" )
sQTL_sig2 <- xQTLquery_sqtlSig(genes=c("ATAD3B", "MLH1"))sQTL_sig2sQTL_sig3 <- xQTLquery_sqtlSig(variantName="rs201327123", genes=c("WASH7P","RP11-206L10.2"))
sQTL_sig3 <- xQTLquery_sqtlSig(variantName="chr17_7465085_A_G_b38", genes="TP53",
tissueSiteDetail="Lung")sQTL_sig3eqtlAssos <- xQTLdownload_eqtlAllAsso(gene="MLH1", variantName = "rs13315355", study="")eqtlAssos <- xQTLdownload_eqtlAllAsso("ATP11B", tissueLabel="Muscle - Skeletal")eqtlAssos <- xQTLdownload_eqtlAllAsso(variantName="rs11568818", study="")eqtlAssos <- xQTLdownload_eqtlAllAsso(variantName="chr11_102530930_T_C_b38",
tissueLabel="Muscle - Skeletal", study="GTEx_V8")eqtlAssos <- xQTLdownload_eqtlAllAsso(gene="MMP7",tissueLabel = "CD4+ T cell", study="")eqtlAssossqtlAssos <- xQTLdownload_sqtlAllAsso(genes=c("MMP7","TP53"), tissue="Lung")sqtlAssosaqtlAssos <- xQTLdownload_xqtlAllAsso(genes=c("MMP7"), tissue="Lung")aqtlAssosgeneInfo <- xQTLquery_gene("TP53")
geneInfo <- xQTLquery_gene(c("tp53","naDK","SDF4") )
geneInfo <- xQTLquery_gene(c("ENSG00000210195.2","ENSG00000078808"))geneInfovarInfo <- xQTLquery_varId("rs12596338")
varInfo <- xQTLquery_varId("chr11_66561248_T_C_b38")
varInfo <- xQTLquery_varPos(chrom="chr1", pos=c(1102708,1105739))varInfotissueAll <- xQTLquery_tissue() # fetch all tissues in GTEx
Brain <- xQTLquery_tissue("Brain")BrainsampleInfo <- xQTLquery_sampleByTissue("Brain - Amygdala" )
sampleInfo <- xQTLquery_sampleByTissue(tissueSiteDetail="Liver", pathologyNotesCategories=TRUE)
sampleIds <- c("GTEX-11NUK-0011-R4a-SM-DO12B", "GTEX-11ONC-0011-R4b-SM-DO93H",
"GTEX-11DXY-0526-SM-5EGGQ", "GTEX-13OVJ-1026-SM-5IFGI")
sampleInfo <- xQTLquery_sampleBySampleId(sampleIds)sampleInfoeQTLexp <- xQTLdownload_eqtlExp(variantName="rs1641513",gene="TP53", tissueSiteDetail="Liver")eQTLexp <- xQTLdownload_eqtlExp(variantName="chr1_14677_G_A_b38",gene="ENSG00000228463.9",
tissueSiteDetail="Stomach")eQTLexpsQTLratio <- xQTLdownload_sqtlExp(variantName="rs1450891501",
phenotypeId="chr1:497299:498399:clu_54863:ENSG00000239906.1",
tissueSiteDetail="Lung")sQTLratio <- xQTLdownload_sqtlExp(variantName="chr1_1259424_T_C_b38",
phenotypeId=" chr1:1487914:1489204:clu_52051:ENSG00000160072.19",
tissueSiteDetail="Adipose - Subcutaneous")sQTLratioeGeneInfo <- xQTLdownload_egene(tissueSiteDetail="Prostate", recordPerChunk=2000)
eGeneInfo <- xQTLdownload_egene("TP53")eGeneInfosGeneInfo <- xQTLdownload_sgene(tissueSiteDetail="Liver")
sGeneInfo <- xQTLdownload_sgene(gene="DDX11", tissueSiteDetail="Liver" )eGeneInfoexpProfiles <- xQTLdownload_exp("ENSG00000210195.2", tissueSiteDetail="Liver")expProfiles <- xQTLdownload_exp("ENSG00000210195.2", tissueSiteDetail="Liver",
toSummarizedExperiment=TRUE)
# extract expression profile from SummarizedExperiment object:
expDT <- SummarizedExperiment::assay(expProfiles)
# extract samples' detail from SummarizedExperiment object:
sampleDT <- SummarizedExperiment::colData(expProfiles)expProfiles <- xQTLdownload_exp(c("tp53","naDK","SDF4"),
tissueSiteDetail="Artery - Coronary",
pathologyNotesCategories=TRUE)expProfiles <- xQTLdownload_exp(c("ENSG00000141510.16","ENSG00000008130.15","ENSG00000078808"),
tissueSiteDetail="Artery - Coronary")expProfiles[,1:12]geneMedExp <- xQTLdownload_geneMedExp(genes=c("TP53", "IRF5"))geneMedExp