diff --git a/README.md b/README.md index 2a7c76ba6e19c530ec34b995b296933d0b7c5233..9869a162f0a0bdbb9132b0ddc847537ac5a53d00 100644 --- a/README.md +++ b/README.md @@ -30,7 +30,20 @@ with `CB` tag, eg. from single-cell preprocessing pipeline (CellRanger, STARSolo - VCF, variant call file that contains the list of informative SNPs (phased or unphased SNPs) - barcodeFile, the list of cell barcodes of the gametes -## Main outputs +## Main outputs from sgcocaller phase +* *phased_snpAnnot.txt + *_phased_snpAnnot.vcf.gz (if --outvcf) + *_totalMtx.mtx + *_altMtx.mtx + *_gtMtx.mtx + +## Main outputs from sgcocaller swphase (or sgcocaller autophase) +* *cellGenoVersusTemplate.txt + *_corrected_phased_snpAnnot.txt + *_corrected_phased_snpAnnot.vcf.gz + *_switch_score.txt + +## Main outputs from sgcocaller xo * *.mtx * sparse matrix with columns corresponding to the list of gamete cell barcodes and rows corresponding to the list of SNP positions in VCF file @@ -47,22 +60,30 @@ with `CB` tag, eg. from single-cell preprocessing pipeline (CellRanger, STARSolo ``` -Usage: - sgcocaller phase [options] <BAM> <VCF> <barcodeFile> <out_prefix> - sgcocaller swphase [options] <gtMtxFile> <phasedSnpAnnotFile> <referenceVCF> <out_prefix> + Usage: + sgcocaller autophase [options] <BAM> <VCF> <barcodeFile> <out_prefix> + sgcocaller phase [options] <BAM> <VCF> <barcodeFile> <out_prefix> + sgcocaller swphase [options] <gtMtxFile> <phasedSnpAnnotFile> <referenceVCF> <out_prefix> sgcocaller sxo [options] <SNPPhaseFile> <phaseOutputPrefix> <barcodeFile> <out_prefix> sgcocaller xo [options] <BAM> <VCF> <barcodeFile> <out_prefix> + Arguments: <BAM> the read alignment file with records of single-cell DNA reads - - <VCF> the variant call file with records of SNPs with hetSNPs phased in the form of REF/ALT or the GT field + + <VCF> the variant call file with records of SNPs <barcodeFile> the text file containing the list of cell barcodes <out_prefix> the prefix of output files + <out_vcf> the output vcf aftering phasing blocks in hapfile + + <gtMtxFile> the output gtMtx.mtx file from running sgcocaller phase + + <phasedSnpAnnotFile> the output phased_snpAnnot.txt from running sgcocaller phase + Options: -t --threads <threads> number of BAM decompression threads [default: 4] --barcodeTag <barcodeTag> the cell barcode tag in BAM [default: CB] @@ -78,22 +99,29 @@ Options: --thetaALT <thetaALT> the theta for the binomial distribution conditioning on hidden state being ALT [default: 0.9] --cmPmb <cmPmb> the average centiMorgan distances per megabases default 0.1 cm per Mb [default: 0.1] --phased the input VCF for calling crossovers contains the phased GT of heterozygous SNPs - --outvcf generate the output in vcf format (phase) + --outvcf generate the output in vcf format (sgcocaller phase) --templateCell <templateCell> the cell's genotype to be used a template cell, as the cell's index (0-starting) in the barcode file, default as not supplied [default: -1] --maxDissim <maxDissim> the maximum dissimilarity for a pair of cell to be selected as potential template cells due to not having crossovers in either cell [default: 0.0099] --maxExpand <maxExpand> the maximum number of iterations to look for locally coexisting positions for inferring missing SNPs in template haplotype sequence [default: 1000] - --posteriorProbMin <posteriorProbMin> the min posterior probability when inferring missing SNPs [default: 0.99] + --posteriorProbMin <posteriorProbMin> the min posterior probability for inferring missing SNPs [default: 0.99] --lookBeyondSnps <lookBeyondSnps> the number of local SNPs to use when finding switch positions [default: 25] - --minSwitchScore <minSwitchScore> the minimum switch score for a site to be identified as having a switch error in the inferred haplotype and corrected [default: 50.0] - --minPositiveSwitchScores <minPositiveSwitchScores> the min number of continuing SNPs with positive switch scores to do switch error correction [default: 8] + --minSwitchScore <minSwitchScore> the minimum switch score for a site to be identified as having a switch error in the inferred haplotype [default: 50.0] + --minPositiveSwitchScores <minPositiveSwitchScores> the min number of continuing SNPs with positive switch scores to do switch error correction [default: 8] + --binSize <binSize> the size of SNP bins for scanning swith errors, users are recommended to increase this option when SNP density is high. [default: 2000] + --stepSize <stepSize> the move step size used in combination with --binSize. [default: 200] + --dissimThresh <dissimThresh> the threshold used on the allele concordance ratio for determining if a SNP bin contains a crossover. [default: 0.0099] + --batchSize <batchSize> the number of cells to process in one batch when running sxo. This option is only needed when the memory is limited. + --notSortMtx do not sort the output mtx. + --maxUseNcells <maxUseNcells> the number of cells to use for calculating switch scores. All cells are used if not set -h --help show help Examples - ./sgcocaller phase --threads 4 --barcodeTag CB --chrom 'chr1' --minDP 2 possorted_bam hetSNPs.vcf.gz barcodeFile.txt outdir/path/withPrefix_ - ./sgcocaller xo --threads 4 possorted_bam.bam dbSNP-hetSNPs.vcf.gz barcodeFile.tsv ./percell/ccsnp - ./sgcocaller sxo phaseOutputPrefix barcodeFile.tsv ./percell/ccsnp - + ./sgcocaller autophase possorted_bam.bam hetSNPs.vcf.gz barcodeFile.tsv phaseOutputPrefix + ./sgcocaller phase possorted_bam.bam hetSNPs.vcf.gz barcodeFile.tsv phaseOutputPrefix + ./sgcocaller xo --threads 4 possorted_bam.bam phased_hetSNPs.vcf.gz barcodeFile.tsv ./percell/ccsnp + ./sgcocaller sxo snp_phase.txt phaseOutputPrefix barcodeFile.tsv ./percell/ccsnp + ``` ### Run for single-cell DNA sequenced gametes with donor haplotype known