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run-example.sh
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run-example.sh
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# RUN filterHD & cloneHD FOR A SIMULATED EXAMPLE DATA SET
# fix the number of threads
export OMP_NUM_THREADS=4;
part=$1
# input data
data="./test/data/"
results="./test/results/"
filterHD="./build/filterHD"
cloneHD="./build/cloneHD"
normalCNA="${data}/normal.cna.txt"
tumorCNA="${data}/tumor.cna.txt"
tumorBAF="${data}/tumor.baf.txt"
tumorSNV="${data}/tumor.snv.txt"
bias="${results}/normal.cna.posterior-1.txt"
tumorCNAjumps="${results}/tumor.cna.bias.jumps.txt"
tumorBAFjumps="${results}/tumor.baf.jumps.txt"
### filterHD ###
if [ -z $part ] || [ $part -eq 1 ]
then
echo "*** filterHD ***"
echo
#emission modes:
# 1: Binomial
# 2: Beta-Binomial
# 3: Poisson
# 4: Negative Binomial
# The normal read depth is analysed to estimate the technical read depth modulation. This will be later used to account
# for the bias field in cloneHD. In principal, jumps are not expected (so could set --jump 0). The simulations do not have
# random emissions.
cmd="$filterHD --data $normalCNA --mode 3 --pre ${results}/normal.cna"
echo $cmd
$cmd
echo
# The tumor read depth is first analysed without bias to get a benchmark for the LLH value. The result will not be used later.
# In the tumor data, we do expect jumps, but we actually would like to learn the jumps only accounting for the bias field (below).
cmd="$filterHD --data $tumorCNA --mode 3 --pre ${results}/tumor.cna"
echo $cmd
$cmd
echo
# The tumor read depth is now analysed with the bias field from the matched normal. The diffusion constant is set to zero.
# If left free, it should converge to a very small value. The jump rate could be slightly higher. The LLH should be higher than
# for the run above indicating the presence of the bias field. Now we are interested in the jumps.
cmd="$filterHD --data $tumorCNA --mode 3 --pre ${results}/tumor.cna.bias --bias $bias --sigma 0 --jumps 1"
echo $cmd
$cmd
echo
# The tumor BAF data is analysed, mainly to get the emission parameters (shape, rnd) and jumps. In principle, there could be jumps
# visible in the BAF data, but not in the read depth (copy number neutral LOH within chromosomes). Diffusion should be switched off.
cmd="$filterHD --data $tumorBAF --mode 1 --pre ${results}/tumor.baf --sigma 0 --jumps 1 --reflect 1 --dist 1"
echo $cmd
$cmd
echo
fi
if [ -z $part ] || [ $part -eq 2 ]
then
### cloneHD ###
echo "*** cloneHD ***"
echo "True mass and cell fractions:" `cat test/data/clones.txt`
echo
# The CNA and BAF data is analysed for subclonality.
# Try varying the --min-jump, --force and --max-tcn values and try --mass-gauging 0.
# Try adding the SNV data to the mix.
cmd="$cloneHD --cna $tumorCNA --baf $tumorBAF --pre ${results}/tumor --bias $bias --seed 123 --trials 2\
--nmax 3 --force --max-tcn 4 --cna-jumps $tumorCNAjumps --baf-jumps $tumorBAFjumps --min-jump 0.01 --restarts 10 --mass-gauging 1"
echo $cmd
$cmd
echo
cat ${results}/tumor.summary.txt
echo
# Using the information from above, the SNV data is analysed. Try what happens removing the --avail-cn and --mean-tcn options.
cmd="$cloneHD --snv $tumorSNV --pre ${results}/tumorSNV --seed 123 --trials 2\
--nmax 3 --force --max-tcn 4 --restarts 10 --mean-tcn ${results}/tumor.mean-tcn.txt --avail-cn ${results}/tumor.avail-cn.txt"
echo $cmd
$cmd
echo
cat ${results}/tumorSNV.summary.txt
fi