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-------------------------------------------------------------------------------- Description: A revision of Wisecondor newref.py and test.py. - Added detection of CNV on chromosome X and Y. - Improved efficiency and stability. -------------------------------------------------------------------------------- usage: newref.py [-h] [-female] [-ignore IGNORE] [-maxbin1 MAXBIN1] [-maxbin2 MAXBIN2] [-refmaxval REFMAXVAL] [-refmaxrep REFMAXREP] refin refout Create a new reference table from a set of reference samples, outputs table as pickle to a specified output file positional arguments: refin directory containing samples (.correct) to be used as reference refout reference table output, used for sample testing (pickle) optional arguments: -h, --help show this help message and exit -female turn on if gender is female (default: False) -ignore IGNORE ignore x highest scoring sample samples per bin distance calculation, 0 to keep all, use if you are unsure about what samples have aberrations and assume at most x have the same aberration, beware: results become less accurate (default: 0) -maxbin1 MAXBIN1 maximum number of reference bins for each target bin before removing neighboring bins (default: 250) -maxbin2 MAXBIN2 maximum number of reference bins for each target bin after removing neighboring bins (final) (default: 100) -refmaxval REFMAXVAL start cutoff value for determining good quality reference bins (default: 1000000) -refmaxrep REFMAXREP amount of improval rounds for determining good quality reference bins (default: 3) -------------------------------------------------------------------------------- usage: test.py [-h] [-female] [-maxrounds MAXROUNDS] [-refminbin REFMINBIN] [-refmaxbin REFMAXBIN] [-window WINDOW] sample reference outfile Calculate z-scores positional arguments: sample sample to be tested (.correct) reference reference table used for within sample comparison (pickle) outfile output results to this file optional arguments: -h, --help show this help message and exit -female turn on if gender is female (default: False) -maxrounds MAXROUNDS maximum amount of rounds used to calculate z-score (default: 5) -refminbin REFMINBIN minimum number of reference bins, ignore target bin if there are less reference bins available (default: 10) -refmaxbin REFMAXBIN maximum number of reference bins, ignore any reference bin after (default: 100) -window WINDOW window size for sliding window approach, number of bins is considered in each direction (i.e. using 3 results in using 3+1+3=7 bins per call) (default: 5)
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