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cuteFC


Getting Start

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Installation

$ git clone https://github.com/Meltpinkg/cuteFC.git && cd cuteFC/ && python setup.py install 

Introduction

Accurate genotype assignment for SVs remains challenging, especially in large-scale joint calling. We develop cuteFC to achieve accurate and efficient regenotyping of SVs through a force-calling approach. Benchmarking results demonstrated that cuteFC outperforms state-of-the-art methods with 2%~5% higher F1 scores. SV joint-calling within the cohort revealed that cuteFC constructs the higher-quality genomic atlas with minimal computational resources. These results prove cuteFC to be a scalable and robust approach suitable for clinical applications, population studies, and related fields.

For more detailed implementation of SV benchmarks, we show an example here.


Dependence

1. python3
2. pysam
3. Biopython
4. cigar
5. numpy
6. pyvcf

Usage

cuteFC <sorted.bam> <reference.fa> <output.vcf> <work_dir> -Ivcf <target.vcf>

Suggestions

> For PacBio CLR data:
	--max_cluster_bias_INS		500
	--diff_ratio_merging_INS	0.5
	--max_cluster_bias_DEL	1000
	--diff_ratio_merging_DEL	0.5

> For PacBio CCS(HIFI) data:
	--max_cluster_bias_INS		1000
	--diff_ratio_merging_INS	0.9
	--max_cluster_bias_DEL	1000
	--diff_ratio_merging_DEL	0.5

> For ONT data:
	--max_cluster_bias_INS		1000
	--diff_ratio_merging_INS	0.5
	--max_cluster_bias_DEL	1000
	--diff_ratio_merging_DEL	0.5
Parameter Description Default
--threads Number of threads to use. 16
--batches Batch of genome segmentation interval. 10,000,000
--sample Sample name/id NULL
--retain_work_dir Enable to retain temporary folder and files. False
--write_old_sigs Enable to output temporary sig files. False
--report_readid Enable to report supporting read ids for each SV. False
--max_split_parts Maximum number of split segments a read may be aligned before it is ignored. All split segments are considered when using -1. (Recommand -1 when applying assembly-based alignment.) 7
--min_mapq Minimum mapping quality value of alignment to be taken into account. 10
--min_read_len Ignores reads that only report alignments with not longer than bp. 500
--merge_del_threshold Maximum distance of deletion signals to be merged. 0
--merge_ins_threshold Maximum distance of insertion signals to be merged. 100
--min_support Minimum number of reads that support a SV to be reported. 10
--min_size Minimum length of SV to be reported. 30
--max_size Maximum size of SV to be reported. Full length SVs are reported when using -1. 100000
--genotype Enable to generate genotypes. False
--gt_round Maximum round of iteration for alignments searching if perform genotyping. 500
--read_range The interval range for counting reads distribution. 1000
--detect_large_ins Enable the detection of large insertions. False
--max_cluster_bias_INS Maximum distance to cluster read together for insertion. 100
--diff_ratio_merging_INS Do not merge breakpoints with basepair identity more than the ratio of default for insertion. 0.3
--max_cluster_bias_DEL Maximum distance to cluster read together for deletion. 200
--diff_ratio_merging_DEL Do not merge breakpoints with basepair identity more than the ratio of default for deletion. 0.5
--max_cluster_bias_INV Maximum distance to cluster read together for inversion. 500
--max_cluster_bias_DUP Maximum distance to cluster read together for duplication. 500
--max_cluster_bias_TRA Maximum distance to cluster read together for translocation. 50
--diff_ratio_filtering_TRA Filter breakpoints with basepair identity less than the ratio of default for translocation. 0.6
--remain_reads_ratio The ratio of reads remained in cluster to generate the breakpoint. Set lower to get more precise breakpoint when the alignment data have high quality but recommand over 0.5. 1
-include_bed Optional given bed file. Only detect SVs in regions in the BED file. NULL

Citation

Jiang, T., Cao, S., Liu, Y. et al. cuteFC: regenotyping structural variants through an accurate and efficient force-calling method. Genome Biol 26, 166 (2025). https://doi.org/10.1186/s13059-025-03642-2


Contact

For advising, bug reporting, and requiring help, please post on Github Issue or contact tjiang@hit.edu.cn.

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