.\" DO NOT MODIFY THIS FILE! It was generated by help2man 1.48.3. .TH CUTESV "1" "July 2021" "cuteSV 1.0.11" "User Commands" .SH NAME cuteSV \- prediction of structural variants from sequence alignments .SH DESCRIPTION usage: cuteSV [\-h] [\-\-version] [\-t THREADS] [\-b BATCHES] [\-S SAMPLE] .IP [\-\-retain_work_dir] [\-\-report_readid] [\-p MAX_SPLIT_PARTS] [\-q MIN_MAPQ] [\-r MIN_READ_LEN] [\-md MERGE_DEL_THRESHOLD] [\-mi MERGE_INS_THRESHOLD] [\-s MIN_SUPPORT] [\-l MIN_SIZE] [\-L MAX_SIZE] [\-sl MIN_SIGLENGTH] [\-\-genotype] [\-\-gt_round GT_ROUND] [\-Ivcf IVCF] [\-\-max_cluster_bias_INS MAX_CLUSTER_BIAS_INS] [\-\-diff_ratio_merging_INS DIFF_RATIO_MERGING_INS] [\-\-max_cluster_bias_DEL MAX_CLUSTER_BIAS_DEL] [\-\-diff_ratio_merging_DEL DIFF_RATIO_MERGING_DEL] [\-\-max_cluster_bias_INV MAX_CLUSTER_BIAS_INV] [\-\-max_cluster_bias_DUP MAX_CLUSTER_BIAS_DUP] [\-\-max_cluster_bias_TRA MAX_CLUSTER_BIAS_TRA] [\-\-diff_ratio_filtering_TRA DIFF_RATIO_FILTERING_TRA] [BAM] reference output work_dir .PP .IP Current version: v1.0.11 Author: Tao Jiang Contact: tjiang@hit.edu.cn .IP If you use cuteSV in your work, please cite: .IP Jiang T et al. Long\-read\-based human genomic structural variation detection with cuteSV. Genome Biol 21,189(2020). https://doi.org/10.1186/s13059\-020\-02107\-y .IP Suggestions: .IP For PacBio CLR data: .TP \fB\-\-max_cluster_bias_INS\fR 100 .TP \fB\-\-diff_ratio_merging_INS\fR 0.3 .TP \fB\-\-max_cluster_bias_DEL\fR 200 .TP \fB\-\-diff_ratio_merging_DEL\fR 0.5 .IP For PacBio CCS(HIFI) data: .TP \fB\-\-max_cluster_bias_INS\fR 1000 .TP \fB\-\-diff_ratio_merging_INS\fR 0.9 .TP \fB\-\-max_cluster_bias_DEL\fR 1000 .TP \fB\-\-diff_ratio_merging_DEL\fR 0.5 .IP For ONT data: .TP \fB\-\-max_cluster_bias_INS\fR 100 .TP \fB\-\-diff_ratio_merging_INS\fR 0.3 .TP \fB\-\-max_cluster_bias_DEL\fR 100 .TP \fB\-\-diff_ratio_merging_DEL\fR 0.3 .PP .SS "positional arguments:" .TP [BAM] Sorted .bam file form NGMLR or Minimap2. .TP reference The reference genome in fasta format. .TP output Output VCF format file. .TP work_dir Work\-directory for distributed jobs .SS "optional arguments:" .TP \fB\-h\fR, \fB\-\-help\fR show this help message and exit .TP \fB\-\-version\fR, \fB\-v\fR show program's version number and exit .TP \fB\-t\fR THREADS, \fB\-\-threads\fR THREADS Number of threads to use.[16] .TP \fB\-b\fR BATCHES, \fB\-\-batches\fR BATCHES Batch of genome segmentation interval.[10000000] .TP \fB\-S\fR SAMPLE, \fB\-\-sample\fR SAMPLE Sample name/id .TP \fB\-\-retain_work_dir\fR Enable to retain temporary folder and files. .TP \fB\-\-report_readid\fR Enable to report supporting read ids for each SV. .SS "Collection of SV signatures:" .TP \fB\-p\fR MAX_SPLIT_PARTS, \fB\-\-max_split_parts\fR MAX_SPLIT_PARTS Maximum number of split segments a read may be aligned before it is ignored. All split segments are considered when using \fB\-1\fR. (Recommand \fB\-1\fR when applying assembly\-based alignment.)[7] .TP \fB\-q\fR MIN_MAPQ, \fB\-\-min_mapq\fR MIN_MAPQ Minimum mapping quality value of alignment to be taken into account.[20] .TP \fB\-r\fR MIN_READ_LEN, \fB\-\-min_read_len\fR MIN_READ_LEN Ignores reads that only report alignments with not longer than bp.[500] .TP \fB\-md\fR MERGE_DEL_THRESHOLD, \fB\-\-merge_del_threshold\fR MERGE_DEL_THRESHOLD Maximum distance of deletion signals to be merged. In our paper, I used \fB\-md\fR 500 to process HG002 real human sample data.[0] .TP \fB\-mi\fR MERGE_INS_THRESHOLD, \fB\-\-merge_ins_threshold\fR MERGE_INS_THRESHOLD Maximum distance of insertion signals to be merged. In our paper, I used \fB\-mi\fR 500 to process HG002 real human sample data.[100] .SS "Generation of SV clusters:" .TP \fB\-s\fR MIN_SUPPORT, \fB\-\-min_support\fR MIN_SUPPORT Minimum number of reads that support a SV to be reported.[10] .TP \fB\-l\fR MIN_SIZE, \fB\-\-min_size\fR MIN_SIZE Minimum size of SV to be reported.[30] .TP \fB\-L\fR MAX_SIZE, \fB\-\-max_size\fR MAX_SIZE Maximum size of SV to be reported.[100000] .TP \fB\-sl\fR MIN_SIGLENGTH, \fB\-\-min_siglength\fR MIN_SIGLENGTH Minimum length of SV signal to be extracted.[10] .SS "Computing genotypes:" .TP \fB\-\-genotype\fR Enable to generate genotypes. .TP \fB\-\-gt_round\fR GT_ROUND Maximum round of iteration for alignments searching if perform genotyping.[500] .SS "Force calling:" .TP \fB\-Ivcf\fR IVCF Optional given vcf file. Enable to perform force calling. [NULL] .SS "Advanced:" .TP \fB\-\-max_cluster_bias_INS\fR MAX_CLUSTER_BIAS_INS Maximum distance to cluster read together for insertion.[100] .TP \fB\-\-diff_ratio_merging_INS\fR DIFF_RATIO_MERGING_INS Do not merge breakpoints with basepair identity more than [0.3] for insertion. .TP \fB\-\-max_cluster_bias_DEL\fR MAX_CLUSTER_BIAS_DEL Maximum distance to cluster read together for deletion.[200] .TP \fB\-\-diff_ratio_merging_DEL\fR DIFF_RATIO_MERGING_DEL Do not merge breakpoints with basepair identity more than [0.5] for deletion. .TP \fB\-\-max_cluster_bias_INV\fR MAX_CLUSTER_BIAS_INV Maximum distance to cluster read together for inversion.[500] .TP \fB\-\-max_cluster_bias_DUP\fR MAX_CLUSTER_BIAS_DUP Maximum distance to cluster read together for duplication.[500] .TP \fB\-\-max_cluster_bias_TRA\fR MAX_CLUSTER_BIAS_TRA Maximum distance to cluster read together for translocation.[50] .TP \fB\-\-diff_ratio_filtering_TRA\fR DIFF_RATIO_FILTERING_TRA Filter breakpoints with basepair identity less than [0.6] for translocation.