Improving the precision of detection of disorder using cell-free DNA signals

Abstract

This project focuses on advancing the precision of disorder detection through the analysis of cell-free DNA signals. By processing Variant Call Format (VCF) files, we employed a Python script to determine mutation rates. Specifically, we explored mutations in crucial genomic regions, such as promoters and CpG islands, by intersecting VCF files with promoters.bed and cpg-island.bed using bedtools. Furthermore, translocation rates were investigated using Fastq files. After splitting the Fastq files and employing the BWA tool for alignment, a Python code was utilized to assess translocations and calculate translocation rates.