library(ADvariantExplorer)
library(EndophenotypeExplorer)
if(!exists("state"))
state <- new.env(parent=emptyenv())
targetGene <- "CLU"
collab.rsids <- c("rs73223431", "rs28834970", "rs2322599")
#----------------------------------------------------------------------------------------------------
gwas.lookup.collaborator.variants <- function()
{
loc.chrom <- "chr8"
loc.start <- 27447528
loc.end <- 27764088
span <- 1 + loc.end - loc.start
avx <- ADvariantExplorer$new(targetGene, loc.chrom, loc.start, loc.end)
tbl.f <- avx$getFilteredGwasTable()
gwas.rsids <- unique(tbl.f$SNPS)
printf("%d variants in %d kb", length(gwas.rsids), span)
intersect(collab.rsids, gwas.rsids)
tbl.all <- avx$getFullGwasTable(trim.columns=TRUE)
dim(tbl.all)
tbl.collab <- subset(tbl.all, SNPS %in% collab.rsids) # 9 7
new.order <- order(tbl.collab$P.VALUE, decreasing=FALSE)
tbl.collab <- tbl.collab[new.order,]
rownames(tbl.collab) <- NULL
} # gwas.lookup.collaborator.variants
#----------------------------------------------------------------------------------------------------
eqtl.lookup.collaborator.variants <- function()
{
etx <- EndophenotypeExplorer$new(targetGene, "hg38", initialize.snpLocs=TRUE)
tbl.locs <- etx$rsidToLoc(collab.rsids)
printf("span: %d", max(tbl.locs$hg38) - min(tbl.locs$hg38)) # 25k
tbl.cat <- avx$geteQTLSummary()
dim(tbl.cat)
studies <- subset(tbl.cat, tissue_label %in% c("brain (DLPFC)", "brain (cortex)") & quant_method=="ge")$unique_id
gtex <- grep("GTEx", studies)
studies <- studies[-gtex]
# "BrainSeq.brain" "ROSMAP.brain_naive" "GTEx.brain_cortex" "GTEx.brain_frontal_cortex"
tbls <- list()
for(r in seq_len(nrow(tbl.locs))){
chrom <- tbl.locs$chrom[r]
start <- tbl.locs$hg38[r] - 1
end <- tbl.locs$hg38[r]
tbl <- avx$geteQTLsByLocationAndStudyID(chrom, start, end, studies, method="REST", simplify=TRUE)
tbls[[r]] <- tbl
}
} # eqtl.lookup.collaborator.variants
#----------------------------------------------------------------------------------------------------
viz <- function()
{
if(!exists("igv")) {
igv <- start.igv("CLU", "hg38")
showGenomicRegion(igv, "chr8:27,274,766-27,723,224") # from PTK2B to SCARA3
}
} # viz
#----------------------------------------------------------------------------------------------------
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