cfSNV
cfSNV detects somatic single-nucleotide variants in cell-free DNA sequencing data to enable sensitive mutation identification from liquid biopsy samples.
Key Features:
- Somatic Mutation Detection in cfDNA: Identifies somatic single-nucleotide variants from cell-free DNA sequencing datasets containing low tumor fractions.
- cfDNA-Specific Variant Calling: Incorporates computational strategies tailored to the distinct characteristics of circulating cell-free DNA.
- Whole-Exome Sequencing Compatibility: Detects mutations from cfDNA whole-exome sequencing datasets at sequencing coverage levels of approximately ≥200×.
- Efficient Mutation Calling: Processes preprocessed whole-exome sequencing datasets with moderate computational resources.
Scientific Applications:
- Liquid Biopsy Mutation Profiling: Detects tumor-derived somatic mutations in circulating cell-free DNA from blood samples.
- Cancer Genomics Research: Supports identification of somatic variants for cancer diagnosis, treatment monitoring, and therapy response evaluation.
Methodology:
cfSNV analyzes sequencing data from cell-free DNA and applies computational methods optimized for low tumor fraction samples to detect somatic single-nucleotide variants from whole-exome sequencing datasets.
Topics
Details
- Cost:
- Free of charge
- Tool Type:
- library
- Operating Systems:
- Mac, Linux, Windows
- Programming Languages:
- C++, Python, R
- Added:
- 8/8/2023
- Last Updated:
- 11/24/2024
Operations
Data Inputs & Outputs
Variant calling
Inputs
Outputs
Publications
Li S, Hu R, Small C, Kang T, Liu C, Zhou XJ, Li W. cfSNV: a software tool for the sensitive detection of somatic mutations from cell-free DNA. Nature Protocols. 2023;18(5):1563-1583. doi:10.1038/s41596-023-00807-w. PMID:36849599. PMCID:PMC10411976.
PMID: 36849599
PMCID: PMC10411976
Funding: - U.S. Department of Health & Human Services | NIH | National Cancer Institute: R01CA246329, R01CA264864, U01CA230705, U01CA237711
Links
Repository
https://github.com/jasminezhoulab/cfSNV