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Last active January 2, 2016 01:39
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T1D-RA targeted regulatory sequencing
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{
"metadata": {
"name": "",
"signature": "sha256:b8c95e1d1caf12d20c692fe3c4877d38bf4c80dd5e1c4fbc667ec961c6afbc9a"
},
"nbformat": 3,
"nbformat_minor": 0,
"worksheets": [
{
"cells": [
{
"cell_type": "heading",
"level": 3,
"metadata": {},
"source": [
"What is the allele frequency spectrum for _known_, on-target variants?"
]
},
{
"cell_type": "code",
"collapsed": false,
"input": [
"%%bash\n",
"\n",
"gemini query \\\n",
" -q \"select aaf from variants where on_target = 1 and in_dbsnp = 1\" \\\n",
" t1d-ra.300samples.vqsr.db \\\n",
"| grep -v None > aaf_known"
],
"language": "python",
"metadata": {},
"outputs": [],
"prompt_number": 23
},
{
"cell_type": "code",
"collapsed": false,
"input": [
"%load_ext rmagic"
],
"language": "python",
"metadata": {},
"outputs": [
{
"output_type": "stream",
"stream": "stdout",
"text": [
"The rmagic extension is already loaded. To reload it, use:\n",
" %reload_ext rmagic\n"
]
}
],
"prompt_number": 11
},
{
"cell_type": "code",
"collapsed": false,
"input": [
"%%R\n",
"\n",
"aaf <- read.table('aaf_known', header=F)\n",
"hist(aaf[,1], breaks=20, main=\"AFS for known, on-target variants\")"
],
"language": "python",
"metadata": {},
"outputs": [
{
"metadata": {},
"output_type": "display_data",
"png": 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BDx06NK7LkCZMmCBTpkyJ5BH9ZMuWLdKxY8foWTxHAAEEEEAgMIFQ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\ngg==\n"
}
],
"prompt_number": 24
},
{
"cell_type": "heading",
"level": 3,
"metadata": {},
"source": [
"What is the allele frequency spectrum for _novel_, on-target variants?"
]
},
{
"cell_type": "code",
"collapsed": false,
"input": [
"%%bash\n",
"\n",
"gemini query \\\n",
" -q \"select aaf from variants where on_target = 1 and in_dbsnp = 0\" \\\n",
" t1d-ra.300samples.vqsr.db \\\n",
"| grep -v None > aaf_novel"
],
"language": "python",
"metadata": {},
"outputs": [],
"prompt_number": 25
},
{
"cell_type": "code",
"collapsed": false,
"input": [
"%%R\n",
"\n",
"aaf <- read.table('aaf_novel', header=F)\n",
"hist(aaf[,1], breaks=20, main=\"AFS for known, on-target variants\")"
],
"language": "python",
"metadata": {},
"outputs": [
{
"metadata": {},
"output_type": "display_data",
"png": 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BOAB0skQAAQQQQIAAzDGAAAIIIIBAAAIE4ADQyRIBBBBAAAECMMcAAggggAAC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\nG0eUlGIjgAACCCBQsUAoxoC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dzfTp06VevXrSsWPHCvYa3rdTre9//vMf+clPfiLmJEvM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\n"
}
],
"prompt_number": 26
},
{
"cell_type": "code",
"collapsed": false,
"input": [],
"language": "python",
"metadata": {},
"outputs": []
}
],
"metadata": {}
}
]
}
# /Users/arq5x/Documents/Projects/QuinlanLab/Collaboration/T1D-RA-H3K4me3-Seq/vcf/72-samples
python comparison-to-immunochip.py t1d-ra.72samples.vqsr.db > t1d-ra.exp.ontarget.hg19.bed
cut -f 1-3 t1d-ra.exp.ontarget.hg19.bed | awk 'NR>1' > t1d-ra.exp.ontarget.hg19.bed3
liftOver t1d-ra.exp.ontarget.hg19.bed3 hg19ToHg18.over.chain.gz t1d-ra.exp.ontarget.hg18.bed3 unmapped
(cat t1d-ra.exp.ontarget.hg18.bed3 | awk '{print $0"\tmapped"}'; awk '{if (NF==4) {print $0"\tunmapped"}}' unmapped) | sort -k4,4n > lifted.bed
paste t1d-ra.exp.ontarget.hg19.bed3 lifted.bed > full
paste t1d-ra.exp.ontarget.hg19.bed full > t1d-ra.exp.ontarget.hg19.and.hg18.bed
args <- commandArgs(TRUE)
# Get a list of the bedtools output files you'd like to read in
print(files <- list.files(pattern="cov.genomewide.txt$"))
# Create lists to hold coverage and cumulative coverage for each alignment,
# and read the data into these lists.
cov <- list()
cov_cumul <- list()
for (i in 1:length(files)) {
cov[[i]] <- read.table(files[i])
cov_cumul[[i]] <- 1-cumsum(cov[[i]][,5])
}
#cov = read.table(file);
#library(RColorBrewer)
cols <- rainbow(length(cov))
print(labs <- gsub("\\.cov\\.genomewide\\.txt", "", files, perl=TRUE), sep="")
# Create a cumulative distribution from the "raw" hist (truncate at depth >=1000)
#cov_cumul = 1 - cumsum(cov[,5]);
# Create plot area, but do not plot anything. Add gridlines and axis labels.
plot(cov[[1]][2:401, 2], cov_cumul[[1]][1:400], type='n', xlab="Depth", ylab="Fraction of capture target bases with depth", ylim=c(0,1.0), main="Target Region Coverage")
abline(v = 20, col = "gray60")
abline(v = 50, col = "gray60")
abline(v = 80, col = "gray60")
abline(v = 100, col = "gray60")
abline(h = 0.50, col = "gray60")
abline(h = 0.90, col = "gray60")
axis(1, at=c(20,50,80), labels=c(20,50,80))
axis(2, at=c(0.90), labels=c(0.90))
axis(2, at=c(0.50), labels=c(0.50))
# Actually plot the data for each of the alignments (stored in the lists).
for (i in 1:length(cov)) points(cov[[i]][2:401, 2], cov_cumul[[i]][1:400], type='l', lwd=3, col=cols[i])
# Add a legend using the nice sample labeles rather than the full filenames.
legend("topright", legend=labs, col=cols, lty=1, lwd=4)
# Create a plot of the CDF
#plot(cov[2:401,2], cov_cumul[1:400], col='darkgreen', type='l', lwd=2,
# xlab="Depth", ylab="Fraction of genome >= depth", ylim=c(0,1.0),
# main=file
#)
#abline(v = 20, col = "gray60")
#abline(v = 50, col = "gray60")
#abline(v = 80, col = "gray60")
#abline(v = 100, col = "gray60")
#abline(h = 0.90, col = "gray60")
#axis(1, at=c(20,50,80), labels=c(20,50,80))
#axis(2, at=c(0.90), labels=c(0.90))
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
for sample in `echo $SAMPLES`;
do
cd $T1DHOME
grep all coverage/$sample.cov.txt > coverage/$sample.cov.genomewide.txt
done
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/coverage
cd $T1DHOME
for rundir in `ls -d *run* | grep -v pdf`;
do
cd $rundir
Rscript ../plotter.multi.R $rundir
mv Rplots.pdf ../$rundir.coverage.cdf.pdf
cd ..
done
gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=allruns.coverage.pdf *.coverage.cdf.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=t1d-run1.pdf coverage/t1d-run1/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=t1d-run1-v3.pdf coverage/t1d-run1-v3/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=t1d-run2a.pdf coverage/t1d-run2a/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=t1d-run4a.pdf coverage/t1d-run4a/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run2.pdf ra-run2/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run3.pdf ra-run3/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run4.pdf ra-run4/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run5.pdf ra-run5/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run6.pdf ra-run6/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run7.pdf ra-run7/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run8.pdf ra-run8/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run9.pdf ra-run9/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run10.pdf ra-run10/*.pdf
#gs -dBATCH -dNOPAUSE -q -sDEVICE=pdfwrite -sOutputFile=ra-run11.pdf ra-run11/*.pdf
  1. Duplication rate
  2. Coverage per target w/ w/o duplicates
  3. Number of novel variants
  4. AFS
export SAMPLES="t1d-run2a-redo/40322601 \
t1d-run2a-redo/40322602 \
t1d-run2a-redo/40322604 \
t1d-run2a-redo/40473801 \
t1d-run2a-redo/40473802 \
t1d-run2a-redo/40473803 \
t1d-run2a-redo/41789801 \
t1d-run2a-redo/41789802 \
t1d-run2a-redo/41789803 \
t1d-run2a-redo/42390801 \
t1d-run2a-redo/42390802 \
t1d-run2a-redo/42390803 \
t1d-run2a-redo/43131301 \
t1d-run2a-redo/43131302 \
t1d-run2a-redo/43131303 \
t1d-run2a-redo/43821501 \
t1d-run2a-redo/43821502 \
t1d-run2a-redo/43821503 \
t1d-run2a-redo/48657901 \
t1d-run2a-redo/48657902 \
t1d-run2a-redo/48657903 \
t1d-run2a-redo/48917101 \
t1d-run2a-redo/48917102 \
t1d-run2a-redo/48917104 \
t1d-run5b-redo/40612301 \
t1d-run5b-redo/40612302 \
t1d-run5b-redo/40612303 \
t1d-run5b-redo/40705901 \
t1d-run5b-redo/40705902 \
t1d-run5b-redo/40705904 \
t1d-run5b-redo/40761201 \
t1d-run5b-redo/40761202 \
t1d-run5b-redo/40761203 \
t1d-run5b-redo/40969901 \
t1d-run5b-redo/40969902 \
t1d-run5b-redo/40969904 \
t1d-run5b-redo/43131601 \
t1d-run5b-redo/43131602 \
t1d-run5b-redo/43131604 \
t1d-run5b-redo/45637601 \
t1d-run5b-redo/45637602 \
t1d-run5b-redo/45637604 \
t1d-run5b-redo/48796901 \
t1d-run5b-redo/48796902 \
t1d-run5b-redo/48796903 \
t1d-run5b-redo/49798101 \
t1d-run5b-redo/49798102 \
t1d-run5b-redo/49798103"
export SAMPLES2="
ra-run10/217 \
ra-run10/218 \
ra-run10/219 \
ra-run10/220 \
ra-run10/221 \
ra-run10/222 \
ra-run10/223 \
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ra-run10/236 \
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ra-run1/1 \
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ra-run11/241 \
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ra-run11/243 \
ra-run11/244 \
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ra-run11/259 \
ra-run11/260 \
ra-run11/261 \
ra-run11/262 \
ra-run11/263 \
ra-run11/264 \
ra-run1/13 \
ra-run1/14 \
ra-run1/15 \
ra-run1/16 \
ra-run1/17 \
ra-run1/18 \
ra-run1/19 \
ra-run1/2 \
ra-run1/20 \
ra-run1/21 \
ra-run1/22 \
ra-run12/265 \
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ra-run12/270 \
ra-run12/271 \
ra-run12/272 \
ra-run12/273 \
ra-run12/274 \
ra-run12/275 \
ra-run12/276 \
ra-run12/277 \
ra-run12/278 \
ra-run12/279 \
ra-run12/280 \
ra-run12/281 \
ra-run12/282 \
ra-run12/283 \
ra-run12/284 \
ra-run12/285 \
ra-run12/286 \
ra-run12/287 \
ra-run12/288 \
ra-run1/23 \
ra-run1/24 \
ra-run1/3 \
ra-run13/289 \
ra-run13/290 \
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ra-run13/292 \
ra-run13/293 \
ra-run13/294 \
ra-run13/295 \
ra-run13/296 \
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ra-run13/298 \
ra-run13/299 \
ra-run13/300 \
ra-run13/301 \
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ra-run13/303 \
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ra-run13/305 \
ra-run13/306 \
ra-run13/307 \
ra-run13/308 \
ra-run13/309 \
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ra-run1/4 \
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ra-run1/5 \
ra-run15/337 \
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ra-run15/352 \
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ra-run15/355 \
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ra-run15/357 \
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ra-run1/6 \
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ra-run2/34 \
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ra-run5/97 \
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ra-run6/109 \
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ra-run6/125 \
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ra-run6/128 \
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ra-run6/131 \
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ra-run7/133 \
ra-run7/134 \
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ra-run7/138 \
ra-run7/139 \
ra-run7/140 \
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ra-run7/144 \
ra-run7/157 \
ra-run7/158 \
ra-run7/159 \
ra-run7/160 \
ra-run7/161 \
ra-run7/162 \
ra-run7/163 \
ra-run7/164 \
ra-run7/165 \
ra-run7/166 \
ra-run7/167 \
ra-run7/168 \
ra-run8/169 \
ra-run8/170 \
ra-run8/171 \
ra-run8/172 \
ra-run8/173 \
ra-run8/174 \
ra-run8/175 \
ra-run8/176 \
ra-run8/177 \
ra-run8/178 \
ra-run8/179 \
ra-run8/180 \
ra-run8/181 \
ra-run8/182 \
ra-run8/183 \
ra-run8/184 \
ra-run8/185 \
ra-run8/186 \
ra-run8/187 \
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ra-run8/189 \
ra-run8/190 \
ra-run8/191 \
ra-run8/192 \
ra-run9/193 \
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ra-run9/198 \
ra-run9/199 \
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ra-run9/210 \
ra-run9/211 \
ra-run9/212 \
ra-run9/213 \
ra-run9/214 \
ra-run9/215 \
ra-run9/216 \
t1d-run10a/42192101 \
t1d-run10a/42192102 \
t1d-run10a/42192104 \
t1d-run10a/42552101 \
t1d-run10a/42552102 \
t1d-run10a/42552104 \
t1d-run10a/42933801 \
t1d-run10a/42933802 \
t1d-run10a/42933804 \
t1d-run10a/45994201 \
t1d-run10a/45994202 \
t1d-run10a/45994203 \
t1d-run10a/46197301 \
t1d-run10a/46197302 \
t1d-run10a/46197304 \
t1d-run10a/47956601 \
t1d-run10a/47956602 \
t1d-run10a/47956603 \
t1d-run10a/48219501 \
t1d-run10a/48219502 \
t1d-run10a/48219503 \
t1d-run10a/48515001 \
t1d-run10a/48515002 \
t1d-run10a/48515003 \
t1d-run10b/40010401 \
t1d-run10b/40010402 \
t1d-run10b/40010404 \
t1d-run10b/41245501 \
t1d-run10b/41245502 \
t1d-run10b/41245504 \
t1d-run10b/43266601 \
t1d-run10b/43266602 \
t1d-run10b/43266604 \
t1d-run10b/44181401 \
t1d-run10b/44181402 \
t1d-run10b/44181403 \
t1d-run10b/45158201 \
t1d-run10b/45158202 \
t1d-run10b/45158203 \
t1d-run10b/45320801 \
t1d-run10b/45320802 \
t1d-run10b/45320804 \
t1d-run10b/45541601 \
t1d-run10b/45541602 \
t1d-run10b/45541604 \
t1d-run10b/45925501 \
t1d-run10b/45925502 \
t1d-run10b/45925503 \
t1d-run11/40983201 \
t1d-run11/40983202 \
t1d-run11/40983204 \
t1d-run11/44005001 \
t1d-run11/44005002 \
t1d-run11/44005003 \
t1d-run11/44495201 \
t1d-run11/44495202 \
t1d-run11/44495203 \
t1d-run11/44997901 \
t1d-run11/44997902 \
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t1d-run11/45383001 \
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t1d-run11/45383004 \
t1d-run11/46966301 \
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t1d-run11/47585201 \
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t1d-run11/47789101 \
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t1d-run11/47789103 \
t1d-run1/41032601 \
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t1d-run1/46628201 \
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t1d-run1/46628204 \
t1d-run1/47960801 \
t1d-run1/47960802 \
t1d-run1/47960803 \
t1d-run1/48094101 \
t1d-run1/48094102 \
t1d-run1/48094104 \
t1d-run1-v3/41032601 \
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t1d-run1-v3/42044401 \
t1d-run1-v3/42044402 \
t1d-run1-v3/42044403 \
t1d-run1-v3/44003301 \
t1d-run1-v3/44003302 \
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t1d-run1-v3/44123901 \
t1d-run1-v3/44123902 \
t1d-run1-v3/44123903 \
t1d-run1-v3/44143001 \
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t1d-run1-v3/44143004 \
t1d-run1-v3/46628201 \
t1d-run1-v3/46628202 \
t1d-run1-v3/46628204 \
t1d-run1-v3/47960801 \
t1d-run1-v3/47960802 \
t1d-run1-v3/47960803 \
t1d-run1-v3/48094101 \
t1d-run1-v3/48094102 \
t1d-run1-v3/48094104 \
t1d-run2a/40322601 \
t1d-run2a/40322602 \
t1d-run2a/40322604 \
t1d-run2a/40473801 \
t1d-run2a/40473802 \
t1d-run2a/40473803 \
t1d-run2a/41789801 \
t1d-run2a/41789802 \
t1d-run2a/41789803 \
t1d-run2a/42390801 \
t1d-run2a/42390802 \
t1d-run2a/42390803 \
t1d-run2a/43131301 \
t1d-run2a/43131302 \
t1d-run2a/43131303 \
t1d-run2a/43821501 \
t1d-run2a/43821502 \
t1d-run2a/43821503 \
t1d-run2a/48657801 \
t1d-run2a/48657902 \
t1d-run2a/48657903 \
t1d-run2a/48917101 \
t1d-run2a/48917102 \
t1d-run2a/48917104 \
t1d-run2a-redo/40322601 \
t1d-run2a-redo/40322602 \
t1d-run2a-redo/40322604 \
t1d-run2a-redo/40473801 \
t1d-run2a-redo/40473802 \
t1d-run2a-redo/40473803 \
t1d-run2a-redo/41789801 \
t1d-run2a-redo/41789802 \
t1d-run2a-redo/41789803 \
t1d-run2a-redo/42390801 \
t1d-run2a-redo/42390802 \
t1d-run2a-redo/42390803 \
t1d-run2a-redo/43131301 \
t1d-run2a-redo/43131302 \
t1d-run2a-redo/43131303 \
t1d-run2a-redo/43821501 \
t1d-run2a-redo/43821502 \
t1d-run2a-redo/43821503 \
t1d-run2a-redo/48657901 \
t1d-run2a-redo/48657902 \
t1d-run2a-redo/48657903 \
t1d-run2a-redo/48917101 \
t1d-run2a-redo/48917102 \
t1d-run2a-redo/48917104 \
t1d-run2b/41050801 \
t1d-run2b/41050802 \
t1d-run2b/41050803 \
t1d-run2b/43293801 \
t1d-run2b/43293802 \
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t1d-run3a/41073901 \
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t1d-run3a/41075701 \
t1d-run3a/41075702 \
t1d-run3a/41075704 \
t1d-run3a/42153401 \
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t1d-run3a/43673001 \
t1d-run3a/43673002 \
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t1d-run3a/44270401 \
t1d-run3a/44270402 \
t1d-run3a/44270404 \
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t1d-run4b/47791202 \
t1d-run4b/47791203 \
t1d-run4b/48842701 \
t1d-run4b/48842702 \
t1d-run4b/48842704 \
t1d-run4b/49423501 \
t1d-run4b/49423502 \
t1d-run4b/49423503 \
t1d-run4b/49484401 \
t1d-run4b/49484402 \
t1d-run4b/49484404 \
t1d-run4b/49530101 \
t1d-run4b/49530102 \
t1d-run4b/49530104 \
t1d-run4b/49713901 \
t1d-run4b/49713902 \
t1d-run4b/49713904 \
t1d-run5a/40203301 \
t1d-run5a/40203302 \
t1d-run5a/40203307 \
t1d-run5a/40712001 \
t1d-run5a/40712002 \
t1d-run5a/40712003 \
t1d-run5a/42545801 \
t1d-run5a/42545802 \
t1d-run5a/42545803 \
t1d-run5a/43199001 \
t1d-run5a/43199002 \
t1d-run5a/43199003 \
t1d-run5a/44194701 \
t1d-run5a/44194702 \
t1d-run5a/44194703 \
t1d-run5a/44673501 \
t1d-run5a/44673502 \
t1d-run5a/44673507 \
t1d-run5a/47948201 \
t1d-run5a/47948202 \
t1d-run5a/47948203 \
t1d-run5a/49055901 \
t1d-run5a/49055902 \
t1d-run5a/49055903 \
t1d-run5b/40612302 \
t1d-run5b/40612301 \
t1d-run5b/40612303 \
t1d-run5b/40705901 \
t1d-run5b/40705902 \
t1d-run5b/40705904 \
t1d-run5b/40761201 \
t1d-run5b/40761202 \
t1d-run5b/40761203 \
t1d-run5b/40969901 \
t1d-run5b/40969902 \
t1d-run5b/40969904 \
t1d-run5b/43131601 \
t1d-run5b/43131602 \
t1d-run5b/43131604 \
t1d-run5b/45637601 \
t1d-run5b/45637602 \
t1d-run5b/45637604 \
t1d-run5b/48796901 \
t1d-run5b/48796903 \
t1d-run5b/48796902 \
t1d-run5b/49798101 \
t1d-run5b/49798102 \
t1d-run5b/49798103 \
t1d-run5b-redo/40612301 \
t1d-run5b-redo/40612302 \
t1d-run5b-redo/40612303 \
t1d-run5b-redo/40705901 \
t1d-run5b-redo/40705902 \
t1d-run5b-redo/40705904 \
t1d-run5b-redo/40761201 \
t1d-run5b-redo/40761202 \
t1d-run5b-redo/40761203 \
t1d-run5b-redo/40969901 \
t1d-run5b-redo/40969902 \
t1d-run5b-redo/40969904 \
t1d-run5b-redo/43131601 \
t1d-run5b-redo/43131602 \
t1d-run5b-redo/43131604 \
t1d-run5b-redo/45637601 \
t1d-run5b-redo/45637602 \
t1d-run5b-redo/45637604 \
t1d-run5b-redo/48796901 \
t1d-run5b-redo/48796902 \
t1d-run5b-redo/48796903 \
t1d-run5b-redo/49798101 \
t1d-run5b-redo/49798102 \
t1d-run5b-redo/49798103 \
t1d-run6a/40565601 \
t1d-run6a/40565602 \
t1d-run6a/40565603 \
t1d-run6a/41952301 \
t1d-run6a/41952302 \
t1d-run6a/41952303 \
t1d-run6a/42052001 \
t1d-run6a/42052002 \
t1d-run6a/42052004 \
t1d-run6a/44155001 \
t1d-run6a/44155002 \
t1d-run6a/44155004 \
t1d-run6a/46281901 \
t1d-run6a/46281902 \
t1d-run6a/46281904 \
t1d-run6a/46871801 \
t1d-run6a/46871802 \
t1d-run6a/46871803 \
t1d-run6a/46927301 \
t1d-run6a/46927302 \
t1d-run6a/46927304 \
t1d-run6a/48659901 \
t1d-run6a/48659902 \
t1d-run6a/48659903 \
t1d-run6b/42893101 \
t1d-run6b/42893102 \
t1d-run6b/42893104 \
t1d-run6b/44855301 \
t1d-run6b/44855302 \
t1d-run6b/44855304 \
t1d-run6b/45082401 \
t1d-run6b/45082402 \
t1d-run6b/45082404 \
t1d-run6b/46578401 \
t1d-run6b/46578402 \
t1d-run6b/46578403 \
t1d-run6b/46579201 \
t1d-run6b/46579202 \
t1d-run6b/46579203 \
t1d-run6b/47138101 \
t1d-run6b/47138102 \
t1d-run6b/47138104 \
t1d-run6b/47588601 \
t1d-run6b/47588602 \
t1d-run6b/47588604 \
t1d-run6b/48117301 \
t1d-run6b/48117302 \
t1d-run6b/48117304 \
t1d-run7a/40257001 \
t1d-run7a/40257002 \
t1d-run7a/40257003 \
t1d-run7a/41792501 \
t1d-run7a/41792502 \
t1d-run7a/41792503 \
t1d-run7a/43558001 \
t1d-run7a/43558002 \
t1d-run7a/43558003 \
t1d-run7a/45263801 \
t1d-run7a/45263802 \
t1d-run7a/45263803 \
t1d-run7a/45423101 \
t1d-run7a/45423102 \
t1d-run7a/45423103 \
t1d-run7a/47018001 \
t1d-run7a/47018002 \
t1d-run7a/47018003 \
t1d-run7a/48368201 \
t1d-run7a/48368202 \
t1d-run7a/48368204 \
t1d-run7a/49453101 \
t1d-run7a/49453102 \
t1d-run7a/49453103 \
t1d-run7b/40914201 \
t1d-run7b/40914202 \
t1d-run7b/40914203 \
t1d-run7b/42057801 \
t1d-run7b/42057802 \
t1d-run7b/42057803 \
t1d-run7b/42212501 \
t1d-run7b/42212502 \
t1d-run7b/42212503 \
t1d-run7b/43095901 \
t1d-run7b/43095902 \
t1d-run7b/43095904 \
t1d-run7b/46054101 \
t1d-run7b/46054102 \
t1d-run7b/46054104 \
t1d-run7b/48265001 \
t1d-run7b/48265002 \
t1d-run7b/48265003 \
t1d-run7b/48841901 \
t1d-run7b/48841902 \
t1d-run7b/48841903 \
t1d-run7b/49544901 \
t1d-run7b/49544902 \
t1d-run7b/49544903 \
t1d-run8a/41681701 \
t1d-run8a/41681702 \
t1d-run8a/41681704 \
t1d-run8a/43915401 \
t1d-run8a/43915402 \
t1d-run8a/43915403 \
t1d-run8a/44229701 \
t1d-run8a/44229702 \
t1d-run8a/44229703 \
t1d-run8a/44305301 \
t1d-run8a/44305302 \
t1d-run8a/44305304 \
t1d-run8a/45128901 \
t1d-run8a/45128902 \
t1d-run8a/45128903 \
t1d-run8a/45193801 \
t1d-run8a/45193802 \
t1d-run8a/45193803 \
t1d-run8a/45424201 \
t1d-run8a/45424202 \
t1d-run8a/45424203 \
t1d-run8a/45503301 \
t1d-run8a/45503302 \
t1d-run8a/45503304 \
t1d-run8b/40490901 \
t1d-run8b/40490902 \
t1d-run8b/40490904 \
t1d-run8b/41774101 \
t1d-run8b/41774102 \
t1d-run8b/41774104 \
t1d-run8b/41965901 \
t1d-run8b/41965902 \
t1d-run8b/41965904 \
t1d-run8b/42959901 \
t1d-run8b/42959902 \
t1d-run8b/42959904 \
t1d-run8b/45994301 \
t1d-run8b/45994302 \
t1d-run8b/45994303 \
t1d-run8b/47052401 \
t1d-run8b/47052402 \
t1d-run8b/47052403 \
t1d-run8b/47976601 \
t1d-run8b/47976602 \
t1d-run8b/47976604 \
t1d-run8b/48476501 \
t1d-run8b/48476502 \
t1d-run8b/48476504 \
t1d-run9a/42062701 \
t1d-run9a/42062702 \
t1d-run9a/42062703 \
t1d-run9a/42445001 \
t1d-run9a/42445002 \
t1d-run9a/42445003 \
t1d-run9a/43061901 \
t1d-run9a/43061902 \
t1d-run9a/43061903 \
t1d-run9a/43486101 \
t1d-run9a/43486102 \
t1d-run9a/43486104 \
t1d-run9a/43983801 \
t1d-run9a/43983802 \
t1d-run9a/43983803 \
t1d-run9a/45531401 \
t1d-run9a/45531402 \
t1d-run9a/45531403 \
t1d-run9a/47506301 \
t1d-run9a/47506302 \
t1d-run9a/47506303 \
t1d-run9a/49329901 \
t1d-run9a/49329902 \
t1d-run9a/49329904 \
t1d-run9b/42087701 \
t1d-run9b/42087702 \
t1d-run9b/42087703 \
t1d-run9b/42662801 \
t1d-run9b/42662802 \
t1d-run9b/42662803 \
t1d-run9b/42881001 \
t1d-run9b/42881002 \
t1d-run9b/42881003 \
t1d-run9b/45551601 \
t1d-run9b/45551602 \
t1d-run9b/45551603 \
t1d-run9b/45747901 \
t1d-run9b/45747902 \
t1d-run9b/45747903 \
t1d-run9b/45767701 \
t1d-run9b/45767702 \
t1d-run9b/45767703 \
t1d-run9b/45974701 \
t1d-run9b/45974702 \
t1d-run9b/45974704 \
t1d-run9b/48196401 \
t1d-run9b/48196402 \
t1d-run9b/48196403"
export SAMPLES="t1d-run4a/45229504 \
t1d-run4a/45229501 \
t1d-run4a/45229502 \
t1d-run4a/40117104 \
t1d-run4a/40117101 \
t1d-run4a/40117102 \
t1d-run4a/42407802 \
t1d-run4a/42407801 \
t1d-run4a/42407804 \
t1d-run4a/45688804 \
t1d-run4a/45688801 \
t1d-run4a/45688802 \
t1d-run4a/49737804 \
t1d-run4a/49737802 \
t1d-run4a/49737801 \
t1d-run4a/46399402 \
t1d-run4a/46399404 \
t1d-run4a/46399401 \
t1d-run4a/49436402 \
t1d-run4a/49436403 \
t1d-run4a/49436401 \
t1d-run4a/47786201 \
t1d-run4a/47786202 \
t1d-run4a/47786203 \
t1d-run2a/40322601 \
t1d-run2a/40322602 \
t1d-run2a/40322604 \
t1d-run2a/40473801 \
t1d-run2a/40473802 \
t1d-run2a/40473803 \
t1d-run2a/41789801 \
t1d-run2a/41789802 \
t1d-run2a/41789803 \
t1d-run2a/42390801 \
t1d-run2a/42390802 \
t1d-run2a/42390803 \
t1d-run2a/43131301 \
t1d-run2a/43131302 \
t1d-run2a/43131303 \
t1d-run2a/43821501 \
t1d-run2a/43821502 \
t1d-run2a/43821503 \
t1d-run2a/48657801 \
t1d-run2a/48657902 \
t1d-run2a/48657903 \
t1d-run2a/48917101 \
t1d-run2a/48917102 \
t1d-run2a/48917104"
############################################################
# BWA MEM
############################################################
export GENOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/fasta/human_g1k_v37.fasta
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1dra-bwamem
for sample in `echo $SAMPLES`;
do
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=8000m:ncpus=6 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; bwa mem $GENOME fastq/${sample}_*_R1_*.fastq.gz fastq/${sample}_*_R2_*.fastq.gz -t 5 -M -R $'@RG\tID:$sample\tSM:$sample' | samtools view -Sb - > bam/$sample.bwamem.bam" | $QSUB
done
############################################################
# SORT
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1dra-sort
for sample in `echo $SAMPLES`;
do
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=12000m:ncpus=8 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; samtools sort -@ 4 -m 2G bam/$sample.bwamem.bam bam/$sample.bwamem.sort" | $QSUB
done
############################################################
# MARK DUPLICATES
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-dedup
export BIN=/home/arq5x/cphg-home/shared/bin/picard-tools-1.72/
for sample in `echo $SAMPLES`;
do
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=8000m:ncpus=2 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; java -Xmx2g -jar $BIN/MarkDuplicates.jar \
INPUT=bam/$sample.bwamem.sort.bam \
OUTPUT=bam/$sample.bwamem.sort.dedup.bam \
TMP_DIR=$T1DHOME/bam \
VALIDATION_STRINGENCY=LENIENT \
ASSUME_SORTED=true \
METRICS_FILE=bam/$sample.markdup_metrics" | $QSUB;
done
############################################################
# INDEX
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-idx
for sample in `echo $SAMPLES`;
do
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=1000m:ncpus=1 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; samtools index bam/$sample.bwamem.sort.dedup.bam" | $QSUB
done
############################################################
# COVERAGE
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-cov
for sample in `echo $SAMPLES`;
do
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=2000m:ncpus=1 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; rm coverage/$sample.cov.txt; bedtools coverage -hist -abam bam/$sample.bwamem.sort.bam -b bed/targets.bed > coverage/$sample.cov.txt" | $QSUB
done
############################################################
# MERGE BAMS
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-merge
export BIN=/home/arq5x/cphg-home/shared/bin/picard-tools-1.60
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=8000m:ncpus=4 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; java -Xmx4g -jar $BIN/MergeSamFiles.jar \
O=bam/all.bwamem.sort.dedup.20140822.bam \
I=bam/ra-run10/217.bwamem.sort.dedup.bam \
I=bam/ra-run10/218.bwamem.sort.dedup.bam \
I=bam/ra-run10/219.bwamem.sort.dedup.bam \
I=bam/ra-run10/220.bwamem.sort.dedup.bam \
I=bam/ra-run10/221.bwamem.sort.dedup.bam \
I=bam/ra-run10/222.bwamem.sort.dedup.bam \
I=bam/ra-run10/223.bwamem.sort.dedup.bam \
I=bam/ra-run10/224.bwamem.sort.dedup.bam \
I=bam/ra-run10/225.bwamem.sort.dedup.bam \
I=bam/ra-run10/226.bwamem.sort.dedup.bam \
I=bam/ra-run10/227.bwamem.sort.dedup.bam \
I=bam/ra-run10/228.bwamem.sort.dedup.bam \
I=bam/ra-run10/229.bwamem.sort.dedup.bam \
I=bam/ra-run10/230.bwamem.sort.dedup.bam \
I=bam/ra-run10/231.bwamem.sort.dedup.bam \
I=bam/ra-run10/232.bwamem.sort.dedup.bam \
I=bam/ra-run10/233.bwamem.sort.dedup.bam \
I=bam/ra-run10/234.bwamem.sort.dedup.bam \
I=bam/ra-run10/235.bwamem.sort.dedup.bam \
I=bam/ra-run10/236.bwamem.sort.dedup.bam \
I=bam/ra-run10/237.bwamem.sort.dedup.bam \
I=bam/ra-run10/238.bwamem.sort.dedup.bam \
I=bam/ra-run10/239.bwamem.sort.dedup.bam \
I=bam/ra-run10/240.bwamem.sort.dedup.bam \
I=bam/ra-run1/1.bwamem.sort.dedup.bam \
I=bam/ra-run1/10.bwamem.sort.dedup.bam \
I=bam/ra-run1/11.bwamem.sort.dedup.bam \
I=bam/ra-run1/12.bwamem.sort.dedup.bam \
I=bam/ra-run11/241.bwamem.sort.dedup.bam \
I=bam/ra-run11/242.bwamem.sort.dedup.bam \
I=bam/ra-run11/243.bwamem.sort.dedup.bam \
I=bam/ra-run11/244.bwamem.sort.dedup.bam \
I=bam/ra-run11/245.bwamem.sort.dedup.bam \
I=bam/ra-run11/246.bwamem.sort.dedup.bam \
I=bam/ra-run11/247.bwamem.sort.dedup.bam \
I=bam/ra-run11/248.bwamem.sort.dedup.bam \
I=bam/ra-run11/249.bwamem.sort.dedup.bam \
I=bam/ra-run11/250.bwamem.sort.dedup.bam \
I=bam/ra-run11/251.bwamem.sort.dedup.bam \
I=bam/ra-run11/252.bwamem.sort.dedup.bam \
I=bam/ra-run11/253.bwamem.sort.dedup.bam \
I=bam/ra-run11/254.bwamem.sort.dedup.bam \
I=bam/ra-run11/255.bwamem.sort.dedup.bam \
I=bam/ra-run11/256.bwamem.sort.dedup.bam \
I=bam/ra-run11/257.bwamem.sort.dedup.bam \
I=bam/ra-run11/258.bwamem.sort.dedup.bam \
I=bam/ra-run11/259.bwamem.sort.dedup.bam \
I=bam/ra-run11/260.bwamem.sort.dedup.bam \
I=bam/ra-run11/261.bwamem.sort.dedup.bam \
I=bam/ra-run11/262.bwamem.sort.dedup.bam \
I=bam/ra-run11/263.bwamem.sort.dedup.bam \
I=bam/ra-run11/264.bwamem.sort.dedup.bam \
I=bam/ra-run1/13.bwamem.sort.dedup.bam \
I=bam/ra-run1/14.bwamem.sort.dedup.bam \
I=bam/ra-run1/15.bwamem.sort.dedup.bam \
I=bam/ra-run1/16.bwamem.sort.dedup.bam \
I=bam/ra-run1/17.bwamem.sort.dedup.bam \
I=bam/ra-run1/18.bwamem.sort.dedup.bam \
I=bam/ra-run1/19.bwamem.sort.dedup.bam \
I=bam/ra-run1/2.bwamem.sort.dedup.bam \
I=bam/ra-run1/20.bwamem.sort.dedup.bam \
I=bam/ra-run1/21.bwamem.sort.dedup.bam \
I=bam/ra-run1/22.bwamem.sort.dedup.bam \
I=bam/ra-run12/265.bwamem.sort.dedup.bam \
I=bam/ra-run12/266.bwamem.sort.dedup.bam \
I=bam/ra-run12/267.bwamem.sort.dedup.bam \
I=bam/ra-run12/268.bwamem.sort.dedup.bam \
I=bam/ra-run12/269.bwamem.sort.dedup.bam \
I=bam/ra-run12/270.bwamem.sort.dedup.bam \
I=bam/ra-run12/271.bwamem.sort.dedup.bam \
I=bam/ra-run12/272.bwamem.sort.dedup.bam \
I=bam/ra-run12/273.bwamem.sort.dedup.bam \
I=bam/ra-run12/274.bwamem.sort.dedup.bam \
I=bam/ra-run12/275.bwamem.sort.dedup.bam \
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I=bam/t1d-run9a/43486104.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/43983801.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/43983802.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/43983803.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/45531401.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/45531402.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/45531403.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/47506301.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/47506302.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/47506303.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/49329901.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/49329902.bwamem.sort.dedup.bam \
I=bam/t1d-run9a/49329904.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42087701.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42087702.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42087703.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42662801.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42662802.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42662803.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42881001.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42881002.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/42881003.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45551601.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45551602.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45551603.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45747901.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45747902.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45747903.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45767701.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45767702.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45767703.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45974701.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45974702.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/45974704.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/48196401.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/48196402.bwamem.sort.dedup.bam \
I=bam/t1d-run9b/48196403.bwamem.sort.dedup.bam \
TMP_DIR=$T1DHOME/bam \
VALIDATION_STRINGENCY=SILENT \
USE_THREADING=true" | $QSUB;
############################################################
# Call SNPs and INDELs with GATK W/O using BAQ.
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-varbaq
export GENOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/fasta/human_g1k_v37.fasta
export BIN=/home/arq5x/cphg-home/shared/bin/GenomeAnalysisTK-2.4-9-g532efad/
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=16000m:ncpus=24 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; java -Xmx4g -jar $BIN/GenomeAnalysisTK.jar \
-T UnifiedGenotyper \
-glm BOTH \
--num_threads 20 \
-baq OFF \
-R $GENOME \
--filter_mismatching_base_and_quals \
-I bam/all.bwamem.sort.dedup.20140822.bam \
-o varcalling/all.raw.nobaq.20140822.vcf" | $QSUB;
############################################################
# VQSR
############################################################
# http://www.broadinstitute.org/gatk/guide/article?id=1259
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-vqsr
export GENOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/fasta/human_g1k_v37.fasta
export BIN=/home/arq5x/cphg-home/shared/bin/GenomeAnalysisTK-2.4-9-g532efad/
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=16000m:ncpus=6 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; java -Xmx4g -jar $BIN/GenomeAnalysisTK.jar \
-T VariantRecalibrator \
-R $GENOME \
--num_threads 4 \
-input varcalling/all.raw.nobaq.vcf \
-recalFile varcalling/all.raw.nobaq.vcf.output.recal \
-tranchesFile varcalling/all.raw.nobaq.vcf.output.tranches \
-resource:hapmap,known=false,training=true,truth=true,prior=15.0 gatk-resources/hapmap_3.3.b37.vcf \
-resource:omni,known=false,training=true,truth=true,prior=12.0 gatk-resources/1000G_omni2.5.b37.vcf \
-resource:1000G,known=false,training=true,truth=false,prior=10.0 gatk-resources/1000G_phase1.snps.high_confidence.b37.vcf \
-resource:dbsnp,known=true,training=false,truth=false,prior=2.0 gatk-resources/dbsnp_138.b37.vcf \
-an QD -an MQRankSum -an ReadPosRankSum -an FS -an DP \
-mode SNP " | $QSUB;
############################################################
# Apply VQSR
############################################################
export T1DHOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq
export STEPNAME=t1d-vqsra
export GENOME=/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/fasta/human_g1k_v37.fasta
export BIN=/home/arq5x/cphg-home/shared/bin/GenomeAnalysisTK-2.4-9-g532efad/
export QSUB="qsub -W group_list=cphg_arq5x -q arq5xlab -V -l select=1:mem=16000m:ncpus=16 -N $STEPNAME -m bea -M arq5x@virginia.edu";
echo "cd $T1DHOME; java -Xmx4g -jar $BIN/GenomeAnalysisTK.jar \
-T ApplyRecalibration \
-R $GENOME \
--num_threads 4 \
-input varcalling/all.raw.nobaq.vcf \
-o varcalling/all.raw.nobaq.vqsr.vcf \
-recalFile varcalling/all.raw.nobaq.vcf.output.recal \
-tranchesFile varcalling/all.raw.nobaq.vcf.output.tranches \
-mode SNP \
--ts_filter_level 99.0" | $QSUB
############################################################
# snpEff
############################################################
java -Xmx4g -jar snpEff.jar eff -v GRCh37.69 /home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/varcalling/all.raw.nobaq.vqsr.vcf \
> /home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/varcalling/all.raw.nobaq.vqsr.snpEff.vcf
bgzip all.raw.nobaq.vqsr.snpEff.vcf
# move to laptop
cd /Users/arq5x/Documents/Projects/QuinlanLab/Collaboration/T1D-RA-H3K4me3-Seq/vcf/72-samples
scp fir.itc.virginia.edu:/home/arq5x/cphg-home/cphg-quinlan/projects/t1d-ra-funcseq/varcalling/all.raw.nobaq.vqsr.snpEff.vcf.gz .
gemini load -v all.raw.nobaq.vqsr.snpEff.vcf.gz -t snpEff --cores 4 t1d-ra.72samples.vqsr.db
gemini annotate -a boolean -f ../../targets.chr.slop300.bed.gz -c on_target_300 t1d-ra.72samples.vqsr.db
############################################################
# TO DO
############################################################
1. run the V3 coverage analysis.
2. get VQSR and quality metrics in the file.
3. need genotypes for each sample.
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