There are 2 ways to run the compiled software: 1) executable or 2) shell script. These options are offered by the Matlab as a result of using the MCR compiler. If you have MCR already installed and added to your path (specifically the LD_LIBRARY_PATH environment variable) then you can use the executable; otherwise, use the shell script as it allows you to manually specify the MCR install path.
### In Linux ###
cd <$install_dir>/APOLLOH_0.1.1/bin/
### Option 1) Run APOLLOH: Executable ###
export LD_LIBRARY_PATH=<$install_dir>/MATLAB_Component_Runtime/v77/runtime/glnxa64/:<$install_dir>/MATLAB_Component_Runtime/v77/sys/os/glnxa64/:<$install_dir>/MATLAB_Component_Runtime/v77/bin/glnxa64/
./apolloh <$input_allelic_ratio_datafile> <$input_copy_number_datafile> ../parameters/K18/apolloh_K18_params_Illumina_stromalRatio_Hyper10k.mat <$output_converged_parameter_file> <$output_results_file>
### Option 2) Run APOLLOH: Shell Script ###
./run_apolloh.sh <$install_dir>/MATLAB_Component_Runtime/v77/ <$input_allelic_ratio_datafile> <$input_copy_number_datafile> ../parameters/K18/apolloh_K18_params_Illumina_stromalRatio_Hyper10k.mat <$output_converged_parameter_file> <$output_results_file>
### Sort data by chromosome and position ###
sort -k1,1n -k2,2n <$output_results_file> tmp.txt
mv tmp.txt <$output_results_file>
### Generate segment file ###
../scripts/createSingleSegFileFromAPOLLOH.pl -i <$output_results_file> -o <$output_segment_results_file> -calls 1;We have provided some data and a script to test that APOLLOH is properly installed and able to run. These files can also serve as a guide to preparing and formatting your input data files.
> cd test/
> head -5 cnfile.txt
ID chrom start end num.mark seg.mean state.num state.name
test 1 1 340000 340 0.128103 3 NEUT
test 1 340001 354000 14 0.672409 5 AMP
test 1 354001 1509000 1155 0.135829 3 NEUT
test 1 1509001 1542000 33 0.833131 6 HLAMP
test 1 1542001 5288000 3746 0.137101 3 NEUT
> head -5 infile.txt
1 1 N 27 N 3
1 698 N 16 N 3
1 4803 N 2 N 9
1 7652 N 37 N 6
1 7997 N 1 N 8
> ./run_APOLLOH_test.shIf you have Matlab installed and wish to run within the Matlab environment, then you can start up Matlab and add the source files before executing the main function.
> ### In Linux ###
> cd <$install_dir>/APOLLOH_0.1.0/bin/
> <$matlab_dir>/bin/matlab
>> % In Matlab
>> addpath(genpath("<$install_dir>/APOLLOH_0.1.0/hmm"))
>> addpath(genpath("<$install_dir>/APOLLOH_0.1.0/util"))
>> % assuming your have all the arguments to the main function assigned...
>> apolloh(infile,cnfile,paramset,outparam,outfile)
When using the compiled executable or running within the Matlab environment, the same input/output files and parameters are required:
Function apolloh(infile,cnfile,paramset,outparam,outfile)
INPUTS:
infile Tab-delimited input file containing allelic counts
from the tumour at positions determined as heterozygous
from the normal genome.
No header line is assumed.
6 columns:
1) chr (integer; 'X' and 'Y' strings can be used)
2) position
3) reference base (can be arbitrary; not used)
4) referenc count
5) non-reference base (can be arbitrary; not used)
6) non-reference count
cnfile Tab-delimited input copy number segment prior file.
The accepted format is the output from HMMcopy,
a read-depth for analyzing copy number in tumour-
normal sequenced genomes.
However, copy number segments from any source can be used.
8-columns:
1) id (can be arbitrary, not used)
2) chr
3) start
4) stop
5) Number of 1kb intervals (can be arbitrary; not used)
6) median log2 ratio (normal and tumour) for segment
7) HMM state: 1=HOMD (0 copies), 2=HEMD (1 copy),
3=NEUT (2 copies), 4=GAIN (3 copies),
5=AMP (4 copies), 6=HLAMP (5+ copies)
Note that for AMP and HLAMP, relative numbers of copies
can be used (i.e. GAIN is 3-4 copies, AMP is 5-6 copies,
HLAMP is 7+ copies)
8 ) CN state (can be arbitrary; not used)
If cnfile='0' is used, then copy number of 2 (diploid) is used
for all positions.
paramset Parameter intialization file is a matlab binary (.mat) file.
This file contains model and setting paramters necessary
to run the program.
See examples in "<$install_dir>/APOLLOH_0.1.0/parameters/".
outfile Tab-delimited output file for position-level results.
9-columns:
1) chr ('X' and 'Y' will be output as 23 and 24)
2) position
3) reference count
4) non-reference count
5) total depth
6) allelic ratio
7) copy number (from input)
8 ) APOLLOH genotype state
9) Zygosity state.
N additional columns:
posterior marginal probabilities (responsibilities) for
each APOLLOH genotype state.
Zygosity states are:
DLOH=deletion-LOH (state 1)
NLOH=copy-neutral-LOH (states 2,4)
ALOH=amplified-LOH (states 5,8,9,13,14,19)
HET=heterozygous (states 3,6,7)
ASCNA=allele-specific-amplification (states 10,12,15,18)
BCNA=balanced-amplification (states 11,16,17)
Segment boundaries are determined as consecutive
marginal states of DLOH, NLOH, ALOH, HET, BCNA,
ASCNA; this implementation does not output this
information. An external Perl script handles this: "
<$install_dir>/APOLLOH_0.1.0/scripts/createSingleSegFileFromAPOLLOH.pl"
outparam Tab-delimited output file storing converged parameters
after model training using Expectation Maximization (EM)
algorithm.
1) Number of iterations
2) Global normal contamination parameter
3) Binomial parameters for each HMM class/state.
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