1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392 393 394 395 396 397 398 399 400 401 402 403 404 405 406 407 408 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 442 443 444 445 446 447 448 449 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464 465 466 467 468 469 470 471 472 473 474 475 476 477 478 479 480 481 482 483 484 485 486 487 488 489 490 491 492 493 494 495 496 497 498 499 500 501 502 503 504 505 506 507 508 509 510 511 512 513 514 515 516 517 518 519 520 521 522 523 524 525 526 527 528 529 530 531 532 533 534 535 536 537 538 539 540 541 542 543 544 545 546 547 548 549 550 551 552 553 554 555 556 557 558 559 560 561 562
|
#!/bin/bash -e
############################################################
# Program: lumpyexpress
# Author: Colby Chiang (cc2qe@virginia.edu)
############################################################
set -eo pipefail
# helper functions to differentiate bam from cram input files. Courtesy idas (https://github.com/indraniel)
# Check if a file is a cram or bam based on the binary header
function is_cram () {
local file_path=$1
header=$($HEXDUMP -n 4 -e '"%c"' ${file_path})
if [ ${header} == 'CRAM' ]; then
result=0
else
result=1
fi
return ${result}
}
function is_bam () {
local file_path=$1
local result=1
is_gzipped=$($HEXDUMP -n 2 -e '"%x"' ${file_path})
if [ ${is_gzipped} = '8b1f' ]; then
is_bam=$(zcat ${file_path} | $HEXDUMP -n 3 -e '"%c"')
if [ ${is_bam} = 'BAM' ]; then
result=0
fi
fi
return ${result}
}
# ensure that we have a valid CRAM or BAM file
function check_valid_cram_or_bam () {
local input_path=$1
if is_cram ${input_path} || is_bam ${input_path} ; then
echo -e "${input_path} is a valid CRAM/BAM file"
else
echo -e "${input_path}: is NOT a valid CRAM/BAM file!"
exit 1
fi
}
# source the paths to the binaries used in the script
source_binaries() {
if [[ -e $1 ]]
then
echo "Sourcing executables from $1 ..."
if [[ $1 == /* ]]
then
source $1
else
source ./$1
fi
else
echo "Config file $1 not found. Attempting to auto-source executables"
# general
LUMPY_HOME=/usr/share/lumpy-sv
LUMPY=`which lumpy || true`
SAMBLASTER=`which samblaster || true`
SAMBAMBA=`which sambamba || true`
SAMTOOLS=`which samtools || true`
# python 2.7 or newer, must have pysam, numpy installed
PYTHON=`which python3 || true`
# For testing if the full BAM is actually a CRAM!
HEXDUMP=`which hexdump || true`
# python scripts
PAIREND_DISTRO=$LUMPY_HOME/scripts/pairend_distro.py
BAMGROUPREADS=$LUMPY_HOME/scripts/bamkit/bamgroupreads.py
BAMFILTERRG=$LUMPY_HOME/scripts/bamkit/bamfilterrg.py
BAMLIBS=$LUMPY_HOME/scripts/bamkit/bamlibs.py
fi
# sambamba has a bug where it can't parse CRAM (at least on our system)
# see https://github.com/lomereiter/sambamba/issues/280
unset SAMBAMBA
}
# ensure that the require python modules are installed before
# beginning analysis
check_python_modules() {
PYTHON_TEST=$1
echo -e "\nChecking for required python modules ($PYTHON_TEST)..."
$PYTHON_TEST -c "from importlib import util; print('pysam not found') if util.find_spec('pysam') is None else None"
$PYTHON_TEST -c "from importlib import util; print('numpy not found') if util.find_spec('numpy') is None else None"
}
## usage
usage() {
echo "
usage: lumpyexpress [options]
options:
-B FILE full BAM or CRAM file(s) (comma separated) (required)
-S FILE split reads BAM file(s) (comma separated)
-D FILE discordant reads BAM files(s) (comma separated)
-R FILE indexed reference genome fasta file (recommended for CRAMs)
-d FILE bedpe file of depths (comma separated and prefixed by sample:)
e.g sample_x:/path/to/sample_x.bedpe,sample_y:/path/to/sample_y.bedpe
-o FILE output file [fullBam.bam.vcf]
-x FILE BED file to exclude
-P output probability curves for each variant
-m INT minimum sample weight for a call [4]
-r FLOAT trim threshold [0]
-T DIR temp directory [./output_prefix.XXXXXXXXXXXX]
-k keep temporary files
-K FILE path to lumpyexpress.config file
(default: same directory as lumpyexpress)
-v verbose
-h show this message
"
}
# set defaults
LUMPY_DIR=`dirname $0`
CONFIG="/etc/lumpy-sv/lumpyexpress.config"
THREADS=1
ANNOTATE=0
MIN_SAMPLE_WEIGHT=4
TRIM_THRES=0
EXCLUDE_BED=
TEMP_DIR=""
GENOTYPE=0
READDEPTH=0
VERBOSE=0
KEEP=0
OUTPUT=""
MAX_SPLIT_COUNT=2
MIN_NON_OVERLAP=20
PROB_CURVE=""
REF=""
REF_ARG=""
SPL_BAM_STRING=""
DISC_BAM_STRING=""
DEPTH_BED_STRING=""
while getopts ":hB:S:D:R:d:o:m:r:x:T:t:PAdgkvK:" OPTION
do
case "${OPTION}" in
h)
usage
exit 0
;;
B)
FULL_BAM_STRING="$OPTARG"
;;
S)
SPL_BAM_STRING="$OPTARG"
;;
D)
DISC_BAM_STRING="$OPTARG"
;;
R)
REF="$OPTARG"
REF_ARG="-T $OPTARG"
;;
d)
DEPTH_BED_STRING="$OPTARG"
;;
o)
OUTPUT="$OPTARG"
;;
m)
MIN_SAMPLE_WEIGHT="$OPTARG"
;;
r)
TRIM_THRES="$OPTARG"
;;
x)
EXCLUDE_BED="$OPTARG"
EXCLUDE_BED_FMT="-x $EXCLUDE_BED"
;;
T)
TEMP_DIR="$OPTARG"
;;
t)
THREADS="$OPTARG"
;;
P)
PROB_CURVE="-P"
;;
A)
ANNOTATE=1
;;
d)
READDEPTH=1
;;
g)
GENOTYPE=1
;;
v)
VERBOSE=1
;;
k)
KEEP=1
;;
K)
CONFIG="$OPTARG"
;;
esac
done
# parse the BAM strings
FULL_BAM_LIST=($(echo $FULL_BAM_STRING | tr "," " "))
SPL_BAM_LIST=($(echo $SPL_BAM_STRING | tr "," " "))
DISC_BAM_LIST=($(echo $DISC_BAM_STRING | tr "," " "))
DEPTH_BED_LIST=($(echo $DEPTH_BED_STRING | tr "," " "))
OPTIND=0
# Check the for the relevant binaries
source_binaries $CONFIG
if [[ -z "$LUMPY" ]]
then
usage
echo -e "Error: lumpy executable not found. Please set path in /etc/lumpy-sv/lumpyexpress.config file\n"
exit 1
elif [[ -z "$PAIREND_DISTRO" ]]
then
usage
echo -e "Error: pairend_distro.py executable not found. Please set path in /etc/lumpy-sv/lumpyexpress.config file\n"
exit 1
elif [[ -z "$BAMFILTERRG" ]]
then
usage
echo -e "Error: bamfilterrg.py executable not found. Please set path in /etc/lumpy-sv/lumpyexpress.config file\n"
exit 1
fi
# $SAMT will be either sambamba or samtools, depending on which is available
if [[ ! -z "$SAMBAMBA" ]]
then
SAMT="$SAMBAMBA"
CRAM_SAMT_ARG="-C"
SAMT_STREAM="$SAMBAMBA view -f bam -l 0"
SAMTOBAM="$SAMBAMBA view -S -f bam -l 0"
SAMSORT="$SAMBAMBA sort -m 1G --tmpdir "
elif [[ ! -z "$SAMTOOLS" ]]
then
SAMT="$SAMTOOLS"
CRAM_SAMT_ARG=""
SAMT_STREAM="$SAMTOOLS view -u"
SAMTOBAM="$SAMTOOLS view -S -u"
SAMSORT="$SAMTOOLS sort -m 1G -T "
else
usage
echo -e "Error: neither samtools nor sambamba were found. Please set path of one of these in /etc/lumpy-sv/lumpyexpress.config file\n"
exit 1
fi
# check for required python modules (pysam, numpy)
check_python_modules $PYTHON
# Check that the required files exist
if [[ ${#FULL_BAM_LIST[@]} -eq 0 ]]
then
usage
echo -e "Error: -B is required\n"
exit 1
fi
set +o nounset
for TEST_BAM in ${FULL_BAM_LIST[@]} ${SPL_BAM_LIST[@]} ${DISC_BAM_LIST[@]}
do
if [[ ! -f $TEST_BAM ]]
then
usage
echo -e "Error: file $TEST_BAM not found.\n"
exit 1
fi
done
for TEST_BED in ${DEPTH_BED_LIST[@]}
do
if [[ -z $(echo "$TEST_BED" | grep ":") ]]
then
usage
echo -e "Error: must specify depths as sample_id:bedpe"
exit 1;
fi
bpath=$(echo "$TEST_BED" | perl -pe 's/^.+://')
if [[ ! -f "$bpath" ]]; then
usage
echo -e "Error: depth bed does not exist: $bpath"
exit 1
fi
done
set -o nounset
# default OUTPUT if not provided
if test -z "$OUTPUT"
then
OUTPUT=`basename "${FULL_BAM_LIST[0]}"`.vcf
fi
OUTBASE=`basename "$OUTPUT"`
# make temporary directory
if [[ $VERBOSE -eq 1 ]]
then
echo "
create temporary directory"
fi
if [[ -z $TEMP_DIR ]]
then
TEMP_DIR=`mktemp -d ${OUTBASE}.XXXXXXXXXXXX`
else
mkdir -p $TEMP_DIR
fi
cleanup () {
rm -rf $TEMP_DIR
}
trap cleanup EXIT
# If splitter and discordant BAMs not provided, generate them
# (LUMPY express)
set +o nounset
if [[ -z "${SPL_BAM_LIST}${DISC_BAM_LIST}" ]]
then
# initialize split and discordant bam lists
SPL_BAM_LIST=()
DISC_BAM_LIST=()
# create temp files and pipes
mkdir -p $TEMP_DIR/spl $TEMP_DIR/disc
if [[ ! -e $TEMP_DIR/spl_pipe ]]
then
mkfifo $TEMP_DIR/spl_pipe
fi
if [[ ! -e $TEMP_DIR/disc_pipe ]]
then
mkfifo $TEMP_DIR/disc_pipe
fi
# generate histo files and construct the strings for LUMPY
for i in $( seq 0 $(( ${#FULL_BAM_LIST[@]}-1 )) )
do
FULL_BAM=${FULL_BAM_LIST[$i]}
EXT_OPT=""
if is_cram $FULL_BAM; then
EXT_OPT="$CRAM_SAMT_ARG $REF_ARG"
fi
# calc readlength if not provided
set +o pipefail
READ_LENGTH=`$SAMT view $EXT_OPT $FULL_BAM | head -n 10000 | gawk 'BEGIN { MAX_LEN=0 } { LEN=length($10); if (LEN>MAX_LEN) MAX_LEN=LEN } END { print MAX_LEN }'`
set -o pipefail
# parse the libraries in the BAM header to extract readgroups from the same library
LIB_RG_LIST=(`$PYTHON $BAMLIBS $FULL_BAM`)
# process each library's splitters and discordants
for j in $( seq 0 $(( ${#LIB_RG_LIST[@]}-1 )) )
do
if [[ "$VERBOSE" -eq 1 ]]
then
echo -e "
$PYTHON $BAMGROUPREADS --fix_flags -i $FULL_BAM -r ${LIB_RG_LIST[$j]} \\
| $SAMBLASTER --acceptDupMarks --excludeDups --addMateTags --maxSplitCount $MAX_SPLIT_COUNT --minNonOverlap $MIN_NON_OVERLAP \\
--splitterFile $TEMP_DIR/spl_pipe --discordantFile $TEMP_DIR/disc_pipe \\
| $SAMT view -S /dev/stdin \\
| gawk '{ if (NR<=1000000) print > \"/dev/stdout\" ; else print > \"/dev/null\" }' \\
| $PYTHON $PAIREND_DISTRO -r $READ_LENGTH -X 4 -N 1000000 -o ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).x4.histo \\
> ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats
$SAMTOBAM $TEMP_DIR/spl_pipe \\
| $SAMSORT $TEMP_DIR/spl -o $TEMP_DIR/$OUTBASE.sample$(($i+1)).lib$(($j+1)).splitters.bam /dev/stdin
$SAMTOBAM $TEMP_DIR/disc_pipe \\
| $SAMSORT $TEMP_DIR/disc -o $TEMP_DIR/$OUTBASE.sample$(($i+1)).lib$(($j+1)).discordants.bam /dev/stdin"
fi
$PYTHON $BAMGROUPREADS --fix_flags -i $FULL_BAM -r ${LIB_RG_LIST[$j]} \
| $SAMBLASTER --acceptDupMarks --excludeDups --addMateTags --maxSplitCount $MAX_SPLIT_COUNT --minNonOverlap $MIN_NON_OVERLAP \
--splitterFile $TEMP_DIR/spl_pipe --discordantFile $TEMP_DIR/disc_pipe \
| $SAMT view -S /dev/stdin \
| gawk '{ if (NR<=1000000) print > "/dev/stdout" ; else print > "/dev/null" }' \
| $PYTHON $PAIREND_DISTRO -r $READ_LENGTH -X 4 -N 1000000 -o ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).x4.histo \
> ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats &
$SAMTOBAM $TEMP_DIR/spl_pipe \
| $SAMSORT $TEMP_DIR/spl -o $TEMP_DIR/$OUTBASE.sample$(($i+1)).lib$(($j+1)).splitters.bam /dev/stdin &
$SAMTOBAM $TEMP_DIR/disc_pipe \
| $SAMSORT $TEMP_DIR/disc -o $TEMP_DIR/$OUTBASE.sample$(($i+1)).lib$(($j+1)).discordants.bam /dev/stdin
wait
# generate discordant pair string for LUMPY
DISC_BAM=$TEMP_DIR/$OUTBASE.sample$(($i+1)).discordants.bam
DISC_SAMPLE=`$SAMT view $EXT_OPT -H $FULL_BAM | grep -m 1 "^@RG" | gawk -v i=$i '{ for (j=1;j<=NF;++j) {if ($j~"^SM:") { gsub("^SM:","",$j); print $j } } }'`
RG_STRING=`echo "${LIB_RG_LIST[$j]}" | sed 's/,/,read_group:/g' | sed 's/^/read_group:/g'`
MEAN=`cat ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats | tr '\t' '\n' | grep "^mean" | sed 's/mean\://g'`
STDEV=`cat ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats | tr '\t' '\n' | grep "^stdev" | sed 's/stdev\://g'`
LUMPY_DISC_STRING="$LUMPY_DISC_STRING -pe bam_file:${DISC_BAM},histo_file:${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).x4.histo,mean:${MEAN},stdev:${STDEV},read_length:${READ_LENGTH},min_non_overlap:${READ_LENGTH},discordant_z:5,back_distance:10,weight:1,id:${DISC_SAMPLE},min_mapping_threshold:20,${RG_STRING}"
# generate split-read string for LUMPY
SPL_BAM=$TEMP_DIR/$OUTBASE.sample$(($i+1)).splitters.bam
SPL_SAMPLE=`$SAMT view $EXT_OPT -H $FULL_BAM | grep -m 1 "^@RG" | gawk -v i=$i '{ for (j=1;j<=NF;++j) {if ($j~"^SM:") { gsub("^SM:","",$j); print $j } } }'`
LUMPY_SPL_STRING="$LUMPY_SPL_STRING -sr bam_file:${SPL_BAM},back_distance:10,min_mapping_threshold:20,weight:1,id:${SPL_SAMPLE},min_clip:20,${RG_STRING}"
done
# merge the splitters and discordants files
if [[ ${#LIB_RG_LIST[@]} -gt 1 ]]
then
MERGE_DISCORDANTS=""
MERGE_SPLITTERS=""
for j in $( seq 0 $(( ${#LIB_RG_LIST[@]}-1 )) )
do
MERGE_DISCORDANTS="$MERGE_DISCORDANTS $TEMP_DIR/$OUTBASE.sample$(($i+1)).lib$(($j+1)).discordants.bam"
MERGE_SPLITTERS="$MERGE_SPLITTERS ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).splitters.bam"
done
if [[ $VERBOSE -eq 1 ]]
then
echo "
$SAMT merge ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).discordants.bam $MERGE_DISCORDANTS
$SAMT merge ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).splitters.bam $MERGE_SPLITTERS
rm $MERGE_DISCORDANTS $MERGE_SPLITTERS"
fi
$SAMT merge ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).discordants.bam $MERGE_DISCORDANTS
$SAMT merge ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).splitters.bam $MERGE_SPLITTERS
rm $MERGE_DISCORDANTS $MERGE_SPLITTERS
else
mv ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).discordants.bam ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).discordants.bam
mv ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).splitters.bam ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).splitters.bam
fi
# update the splitters and discordant BAM lists
SPL_BAM_LIST+=(${TEMP_DIR}/$OUTBASE.sample$(($i+1)).splitters.bam)
DISC_BAM_LIST+=(${TEMP_DIR}/$OUTBASE.sample$(($i+1)).discordants.bam)
done
# else (user provided a splitter and discordants file)
else
# parse the libraries in the BAM header to extract readgroups from the same library
for i in $( seq 0 $(( ${#FULL_BAM_LIST[@]}-1 )) )
do
FULL_BAM=${FULL_BAM_LIST[$i]}
EXT_OPT=""
if is_cram $FULL_BAM; then
EXT_OPT="$CRAM_SAMT_ARG $REF_ARG"
fi
DISC_BAM=${DISC_BAM_LIST[$i]}
SPL_BAM=${SPL_BAM_LIST[$i]}
# LIB_RG_LIST contains an element for each library in the BAM file.
# These elements are comma delimited strings for the readgroups for each library.
LIB_RG_LIST=(`$PYTHON $BAMLIBS ${FULL_BAM_LIST[$i]}`)
if [[ ${#LIB_RG_LIST[@]} -eq 0 ]]
then
echo "Warning: BAM file lacks read groups, paired-end analysis may fail"
fi
# generate the histo, stats, and config files
echo "Calculating insert distributions... "
for j in $( seq 0 $(( ${#LIB_RG_LIST[@]}-1 )) )
do
# calculate read length if not provided
set +o pipefail
LIB_READ_LENGTH_LIST+=(`$SAMT view $EXT_OPT ${FULL_BAM_LIST[$i]} | head -n 10000 | gawk 'BEGIN { MAX_LEN=0 } { LEN=length($10); if (LEN>MAX_LEN) MAX_LEN=LEN } END { print MAX_LEN }'`)
echo "Library read groups: ${LIB_RG_LIST[$j]}"
echo "Library read length: ${LIB_READ_LENGTH_LIST[$j]}"
$SAMT_STREAM $EXT_OPT ${FULL_BAM_LIST[$i]} \
| $PYTHON $BAMFILTERRG -n 10000000 --readgroup ${LIB_RG_LIST[$j]} \
| grep -v '^@' \
| tail -n 1000000 \
| $PYTHON $PAIREND_DISTRO -r ${LIB_READ_LENGTH_LIST[$j]} -X 4 -N 1000000 -o ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).x4.histo \
> ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats
set -o pipefail
done
echo "done"
# construct LUMPY_SPL_STRING
SPL_SAMPLE=`$SAMT view -H $SPL_BAM | grep -m 1 "^@RG" | gawk -v i=$i '{ for (j=1;j<=NF;++j) {if ($j~"^SM:") { gsub("^SM:","",$j); print $j } } }'`
LUMPY_SPL_STRING="$LUMPY_SPL_STRING -sr bam_file:${SPL_BAM},back_distance:10,min_mapping_threshold:20,weight:1,id:${SPL_SAMPLE},min_clip:20"
# construct LUMPY_DISC_STRING
for j in $( seq 0 $(( ${#LIB_RG_LIST[@]}-1 )) )
do
echo $(( ${#FULL_BAM_LIST[@]}-1 ))
DISC_BAM=${DISC_BAM_LIST[$i]}
DISC_SAMPLE=`$SAMT view -H $DISC_BAM | grep -m 1 "^@RG" | gawk -v i=$i '{ for (j=1;j<=NF;++j) {if ($j~"^SM:") { gsub("^SM:","",$j); print $j } } }'`
MEAN=`cat ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats | tr '\t' '\n' | grep "^mean" | sed 's/mean\://g'`
STDEV=`cat ${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).insert.stats | tr '\t' '\n' | grep "^stdev" | sed 's/stdev\://g'`
RG_STRING=`echo "${LIB_RG_LIST[$j]}" | sed 's/,/,read_group:/g' | sed 's/^/read_group:/g'`
if [[ "$MEAN" != "NA" ]] && [[ "$STDEV" != "NA" ]]
then
LUMPY_DISC_STRING="$LUMPY_DISC_STRING -pe bam_file:${DISC_BAM},histo_file:${TEMP_DIR}/$OUTBASE.sample$(($i+1)).lib$(($j+1)).x4.histo,mean:${MEAN},stdev:${STDEV},read_length:${LIB_READ_LENGTH_LIST[$j]},min_non_overlap:${LIB_READ_LENGTH_LIST[$j]},discordant_z:5,back_distance:10,weight:1,id:${DISC_SAMPLE},min_mapping_threshold:20,${RG_STRING}"
fi
done
done
fi
LUMPY_DEPTH_STRING=""
if [[ ! -z "$DEPTH_BED_LIST" ]]; then
# -bedpe bedpe_file:<bedpe file>,id:<sample name>,weight:<sample weight>
set -o nounset
for j in $( seq 0 $(( ${#DEPTH_BED_LIST[@]}-1 )) )
do
rec=${DEPTH_BED_LIST[$j]}
f=$(echo $rec | perl -pe 's/^.+://')
sample=$(echo $rec | perl -pe 's/:.+$//')
# give weight of 4 since these have been called before.
LUMPY_DEPTH_STRING="$LUMPY_DEPTH_STRING -bedpe bedpe_file:$f,id:$sample,weight:4"
done
set +o nounset
fi
echo "Running LUMPY... "
if [[ "$VERBOSE" -eq 1 ]]
then
echo "
$LUMPY ${PROB_CURVE} \\
-t ${TEMP_DIR}/${OUTBASE} \\
-msw $MIN_SAMPLE_WEIGHT \\
-tt $TRIM_THRES \\
$LUMPY_DEPTH_STRING \\
$EXCLUDE_BED_FMT \\
$LUMPY_DISC_STRING \\
$LUMPY_SPL_STRING \\
> $OUTPUT"
fi
# call lumpy
$LUMPY $PROB_CURVE -t ${TEMP_DIR}/${OUTBASE} -msw $MIN_SAMPLE_WEIGHT -tt $TRIM_THRES \
$LUMPY_DEPTH_STRING \
$EXCLUDE_BED_FMT \
$LUMPY_DISC_STRING \
$EXCLUDE_BED_FMT \
$LUMPY_SPL_STRING \
> $OUTPUT
# clean up
if [[ "$KEEP" -eq 0 ]]
then
rm -r ${TEMP_DIR}
fi
echo "LUMPY Express done"
# exit cleanly
exit 0
## END SCRIPT
|