cfDNApipe

cfDNApipe analyzes cell-free DNA high-throughput sequencing data from whole-genome sequencing (WGS) and whole-genome bisulfite sequencing (WGBS) to detect genomic and epigenetic alterations associated with disease.


Key Features:

  • Integrated cfDNA Analysis Pipeline: Processes raw cfDNA high-throughput sequencing data from WGS and WGBS experiments within a unified computational workflow.
  • Quality Control Analysis: Performs systematic quality control procedures to assess sequencing data quality in cfDNA datasets.
  • Copy Number Variation Detection: Identifies copy number variations from cfDNA sequencing data.
  • DNA Methylation Analysis: Detects differentially methylated regions from whole-genome bisulfite sequencing data.
  • Fragment Size Analysis: Analyzes cfDNA fragment length distributions to identify disease-associated fragmentation patterns.

Scientific Applications:

  • Liquid Biopsy Analysis: Investigates genomic and epigenetic biomarkers in circulating cell-free DNA for disease detection.
  • Cancer Genomics: Identifies tumor-associated copy number alterations and methylation changes from cfDNA sequencing data.
  • Clinical Genomics Research: Supports analysis of cfDNA features for applications including oncology, prenatal testing, and transplant monitoring.

Methodology:

cfDNApipe processes whole-genome sequencing and whole-genome bisulfite sequencing data from cell-free DNA and performs quality control, copy number variation detection, differential methylation analysis, and fragment size distribution analysis.

Topics

Details

Tool Type:
command-line tool, library, workflow
Programming Languages:
Python
Added:
6/14/2021
Last Updated:
11/24/2024

Operations

Publications

Zhang W, Wei L, Huang J, Zhong B, Li J, Xu H, He S, Liu Y, Liu J, Lv H, Wang X. cfDNApipe: a comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data. Bioinformatics. 2021;37(22):4251-4252. doi:10.1093/bioinformatics/btab413. PMID:34042972. PMCID:PMC9502158.

PMID: 34042972
PMCID: PMC9502158
Funding: - National Natural Science Foundation of China: 61721003, 61773230

Documentation

Links