library(xQTLbiolinks)
library(data.table)
library(stringr)
<- xQTLquery_eqtlSig("rs201327123")
eQTL_sig1 <- xQTLquery_eqtlSig("chr1_14677_G_A_b38")
eQTL_sig1 # Query significant eQTL associations with a variant id in a specified tissue:
<- xQTLquery_eqtlSig("chr1_14677_G_A_b38",
eQTL_sig1 tissueSiteDetail="Skin - Sun Exposed (Lower leg)")
eQTL_sig1
<- xQTLquery_varPos(chrom="chr1", pos=c(1102708))
varInfo <- xQTLquery_eqtlSig(variantName=varInfo$snpId) eQTL_sig2
head(eQTL_sig2)
<- xQTLquery_eqtlSig(genes="ATAD3B")
eQTL_sig3 <- xQTLquery_eqtlSig(genes=c("TP53", "SLC35E2B"), tissueSiteDetail= "Brain - Cerebellum")
eQTL_sig3 <- xQTLquery_eqtlSig(genes="ENSG00000141510.16") eQTL_sig3
head(eQTL_sig3)
<- xQTLquery_eqtlSig(variantName="rs1641513", genes="TP53")
eQTL_sig4 <- xQTLquery_eqtlSig(variantName="chr1_1667948_A_G_b38",
eQTL_sig4 genes="SLC35E2B", tissueSiteDetail="Kidney - Cortex")
eQTL_sig4
Multi-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:
<- xQTLquery_eqtl(gene="TP53")
eqtlMeta # Query with a variant-gene pair:
<- xQTLquery_eqtl(variantName="rs1641513",gene="TP53") eqtlMeta
head(eqtlMeta)
<- xQTLquery_sqtlSig(variantName="rs201327123")
sQTL_sig1 <- xQTLquery_sqtlSig(variantName="chr1_14677_G_A_b38", tissueSiteDetail="Whole Blood") sQTL_sig1
sQTL_sig1
<- xQTLquery_sqtlSig(genes="ENSG00000141510.16", tissueSiteDetail="Lung" )
sQTL_sig2 <- xQTLquery_sqtlSig(genes=c("ATAD3B", "MLH1")) sQTL_sig2
sQTL_sig2
<- xQTLquery_sqtlSig(variantName="rs201327123", genes=c("WASH7P","RP11-206L10.2"))
sQTL_sig3 <- xQTLquery_sqtlSig(variantName="chr17_7465085_A_G_b38", genes="TP53",
sQTL_sig3 tissueSiteDetail="Lung")
sQTL_sig3
<- 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",
eqtlAssos tissueLabel="Muscle - Skeletal", study="GTEx_V8")
<- xQTLdownload_eqtlAllAsso(gene="MMP7",tissueLabel = "CD4+ T cell", study="") eqtlAssos
eqtlAssos
<- xQTLdownload_sqtlAllAsso(genes=c("MMP7","TP53"), tissue="Lung") sqtlAssos
sqtlAssos
<- xQTLdownload_xqtlAllAsso(genes=c("MMP7"), tissue="Lung") aqtlAssos
aqtlAssos
<- xQTLquery_gene("TP53")
geneInfo <- xQTLquery_gene(c("tp53","naDK","SDF4") )
geneInfo <- xQTLquery_gene(c("ENSG00000210195.2","ENSG00000078808")) geneInfo
geneInfo
<- xQTLquery_varId("rs12596338")
varInfo <- xQTLquery_varId("chr11_66561248_T_C_b38")
varInfo <- xQTLquery_varPos(chrom="chr1", pos=c(1102708,1105739)) varInfo
varInfo
<- xQTLquery_tissue() # fetch all tissues in GTEx
tissueAll <- xQTLquery_tissue("Brain") Brain
Brain
<- xQTLquery_sampleByTissue("Brain - Amygdala" )
sampleInfo <- xQTLquery_sampleByTissue(tissueSiteDetail="Liver", pathologyNotesCategories=TRUE)
sampleInfo <- c("GTEX-11NUK-0011-R4a-SM-DO12B", "GTEX-11ONC-0011-R4b-SM-DO93H",
sampleIds "GTEX-11DXY-0526-SM-5EGGQ", "GTEX-13OVJ-1026-SM-5IFGI")
<- xQTLquery_sampleBySampleId(sampleIds) sampleInfo
sampleInfo
<- xQTLdownload_eqtlExp(variantName="rs1641513",gene="TP53", tissueSiteDetail="Liver") eQTLexp
<- xQTLdownload_eqtlExp(variantName="chr1_14677_G_A_b38",gene="ENSG00000228463.9",
eQTLexp tissueSiteDetail="Stomach")
eQTLexp
<- xQTLdownload_sqtlExp(variantName="rs1450891501",
sQTLratio phenotypeId="chr1:497299:498399:clu_54863:ENSG00000239906.1",
tissueSiteDetail="Lung")
<- xQTLdownload_sqtlExp(variantName="chr1_1259424_T_C_b38",
sQTLratio phenotypeId=" chr1:1487914:1489204:clu_52051:ENSG00000160072.19",
tissueSiteDetail="Adipose - Subcutaneous")
sQTLratio
<- xQTLdownload_egene(tissueSiteDetail="Prostate", recordPerChunk=2000)
eGeneInfo <- xQTLdownload_egene("TP53") eGeneInfo
eGeneInfo
<- xQTLdownload_sgene(tissueSiteDetail="Liver")
sGeneInfo <- xQTLdownload_sgene(gene="DDX11", tissueSiteDetail="Liver" ) sGeneInfo
eGeneInfo
<- xQTLdownload_exp("ENSG00000210195.2", tissueSiteDetail="Liver") expProfiles
<- xQTLdownload_exp("ENSG00000210195.2", tissueSiteDetail="Liver",
expProfiles toSummarizedExperiment=TRUE)
# extract expression profile from SummarizedExperiment object:
<- SummarizedExperiment::assay(expProfiles)
expDT # extract samples' detail from SummarizedExperiment object:
<- SummarizedExperiment::colData(expProfiles) sampleDT
<- xQTLdownload_exp(c("tp53","naDK","SDF4"),
expProfiles tissueSiteDetail="Artery - Coronary",
pathologyNotesCategories=TRUE)
<- xQTLdownload_exp(c("ENSG00000141510.16","ENSG00000008130.15","ENSG00000078808"),
expProfiles tissueSiteDetail="Artery - Coronary")
1:12] expProfiles[,
<- xQTLdownload_geneMedExp(genes=c("TP53", "IRF5")) geneMedExp
geneMedExp