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

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
    Funding: - U.S. Department of Health & Human Services | NIH | National Cancer Institute: R01CA246329, R01CA264864, U01CA230705, U01CA237711

    Links