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IMPORTANT: -CADD scores for homozygous alleles are not counted twice, just once. -Multiple entries for one position are discarded, only one is taken into account
[optional] arguments: -h, --help show this help message and exit --vep VEP: vep file with CADD scores --tfile TFILE: Prefix of tped and tfam, both files will be read [--CADD] CADD_PHRED/CADD_RAW: Either CADD_PHRED or CADD_RAW score will be estimated, default CADD_PHRED [--threshold] THRESHOLD: CADD threshold, Int [--gene] GENE_LIST: File with gene list to estimate CADD from [--start_bp] START_BP: Int with start position in bp [--end_bp] END_BP: Int with end position in bp [--denovo] DENOVO: Estimate de novo mutations, WORK IN PROGRESS DO NOT USE --output OUTPUT output name file
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Python script providing summary of CADD scores conditioned on several options