Frankie China
07/10/2025, 9:51 PMBenjamin Story
07/14/2025, 10:03 AMReference Files
Reference genome: ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/phase2_reference_assembly_sequence/
The Alu and L1 BED files are derived directly from Repeatmasker. A copy of the BED files used in the analysis are here:ftp://ftp-mouse.sanger.ac.uk/other/tk2/RetroSeq/hg19/
Also, we used Alu and L1 sequence files to increase the sensitivity of the discover stage. These were derived directly from Repbase. A copy of the files used is here: ftp://ftp-mouse.sanger.ac.uk/other/tk2/RetroSeq/hg19/hg19_probes.tgz
Benjamin Story
07/28/2025, 1:51 PMBenjamin Story
07/28/2025, 4:15 PMsetwd('transposons')
library(data.table)
repeats <- fread('rmsk_hg38.txt.gz')
## BED writer (no 1-bp shift)
write.bed.direct <- function(dt, filename) {
dt <- dt[chr %in% paste0('chr', c(1:22, 'X', 'Y'))]
dt$chr <- gsub('chr', '', dt$chr)
fwrite(dt, filename, sep='\t', col.names=FALSE)
}
## Alu elements
repeats.alu <- repeats[grepl('Alu', V11) | grepl('Alu', V13),.(chr = V6, start = V7, end = V8, name = 'SINE/Alu')]
write.bed.direct(repeats.alu,'grch38_UCSC_alu.bed')
## HERV elements
repeats.herv <- repeats[grepl('LTR|ERV', V11) | grepl('LTR|ERV', V13),.(chr = V6, start = V7, end = V8, V12, V13)]
repeats.herv$name <- paste0(repeats.herv$V12,'/',repeats.herv$V13)
repeats.herv <- repeats.herv[!grepl('Gypsy', name) & grepl('ERV', name)]
repeats.herv <- repeats.herv[, .(chr, start, end, name)]
write.bed.direct(repeats.herv,'grch38_UCSC_herv.bed')
## L1/L2 elements
repeats.l1 <- repeats[grepl('^L1|^L2', V11) | grepl('^L1|^L2', V13),.(chr = V6, start = V7, end = V8, V12, V13)]
repeats.l1$name <- paste0(repeats.l1$V12,'/',repeats.l1$V13)
repeats.l1 <- repeats.l1[, .(chr, start, end, name)]
write.bed.direct(repeats.l1,'grch38_UCSC_l1.bed')
## SVA elements
repeats.sva <- repeats[grepl('^SVA', V11) | grepl('^SVA', V12) | grepl('^SVA', V13),.(chr = V6, start = V7, end = V8, V12, V13)]
repeats.sva$name <- paste0(repeats.sva$V12,'/',repeats.sva$V13)
repeats.sva <- repeats.sva[, .(chr, start, end, name)]
write.bed.direct(repeats.sva,'grch38_UCSC_sva.bed')
file.paths <- data.table(
type = c("L1", "SVA", "ALU", "HERV"),
path = c(
normalizePath("grch38_UCSC_l1.bed"),
normalizePath("grch38_UCSC_sva.bed"),
normalizePath("grch38_UCSC_alu.bed"),
normalizePath("grch38_UCSC_herv.bed")
)
)
## output
fwrite(file.paths,"../mobile_element_references.tsv", sep="\t")