## Quality Check ### qcVCF qcVCF produces a report in JSON format with different quality metrics calculated for input VCF file. Both single sample and family-based metrics are available. #### Arguments ```text usage: granite qcVCF [-h] -i INPUTFILE -o OUTPUTFILE -p PEDIGREE --samples SAMPLES [SAMPLES ...] [--ti_tv] [--trio_errors] [--het_hom] optional arguments: -i INPUTFILE, --inputfile INPUTFILE input VCF file -o OUTPUTFILE, --outputfile OUTPUTFILE output file to write results as JSON, use .json as extension -p PEDIGREE, --pedigree PEDIGREE pedigree information, either as JSON file or JSON representation as string --samples SAMPLES [SAMPLES ...] list of sample IDs to get stats for (e.g. --samples SampleID_1 [SampleID_2] ...) --ti_tv add transition-transversion ratio and statistics on substitutions to report --trio_errors add statistics on mendelian errors based on trio to report --het_hom add heterozygosity ratio and statistics on zygosity to report ``` ### validateVCF validateVCF produces a report in JSON format with error models for different inheritance modes calculated for input VCF file. Additional supporting plots are generated in PNG format. #### Arguments ```text usage: granite validateVCF [-h] -i INPUTFILE -o OUTPUTFILE -p PEDIGREE [PEDIGREE ...] --anchor ANCHOR [ANCHOR ...] [--het HET [HET ...]] [--novo NOVO] [--verbose] optional arguments: -i INPUTFILE, --inputfile INPUTFILE input VCF file -o OUTPUTFILE, --outputfile OUTPUTFILE output file to write results as JSON, use .json as extension -p PEDIGREE [PEDIGREE ...], --pedigree PEDIGREE [PEDIGREE ...] pedigree information, either as JSON file or JSON representation as string. It is possible to specify multiple pedigrees to load as list (e.g. --pedigree pedigree_1 [pedigree_2] ...) --anchor ANCHOR [ANCHOR ...] sample ID to be used as anchor in pedigree to build family. It is possible to specify multiple sample IDs as list. If multiple pedigrees are specified in "-- pedigree", anchors are positionally matched to corresponding pedigree --het HET [HET ...] sample ID to be used to calculate error model for heterozygous mutations. It is possible to specify multiple sample IDs as list. Each sample ID must correspond to anchor specified in "--anchor" --novo NOVO sample ID to be used to calculate error model for de novo mutations. Must correspond to anchor specified in "--anchor". Requires posterior probability from novoCaller --type TYPE [TYPE ...] by default error models are calculated only for SNV. It is possible to specify different types of variant to use (SNV, INS, DEL, MNV, MAV) as list (e.g. --type SNV INS DEL) ``` ### SVqcVCF SVqcVCF produces a report in JSON format with different quality metrics calculated for input SV VCF file. Currently, this function can count DEL and DUP SVs in single- and multi-sample SV VCF files. It reports the number of DEL, DUP, and total (the sum of only DEL and DUP) SVs for each sample provided in samples. Other SVTYPEs (INS, INV, CNV, BND) are currently ignored. #### Arguments ```text usage: granite SVqcVCF [-h] -i INPUTFILE -o OUTPUTFILE --samples SAMPLES [SAMPLES ...] [--verbose] optional arguments: -i INPUTFILE, --inputfile INPUTFILE input SV VCF file -o OUTPUTFILE, --outputfile OUTPUTFILE output file to write results as JSON, use .json as extension --samples SAMPLES [SAMPLES ...] list of sample IDs to get stats for (e.g. --samples SampleID_1 [SampleID_2] ...) ```