Monitoring the Rate and Variability of Somatic Genomic Alterations Using Long-Read Sequencing

This repository contains data files related to the study Monitoring the Rate and Variability of Somatic Genomic Alterations Using Long-Read Sequencing. The data contents are as follows: File Content HG002_fully_resolved.zip Ground truth variant callset for GIAB HG002 reference sample STATE_HG002_vcfs.zip Varaint files (VCFs) for the true positive (tp) and false positive (fp) calls for each sequencing analysis of the HG002 reference genome artifact_exclusion.bed Filtering BED file used to remove artifacts and pathogenic regions STATE_vcfs_f3_region_filtered.zip Variant files (VCFs) for the high confidence somatic SNVs samples.csv Table of sample details subjects.csv Table of study subjects' demographic information noisy_coverage_regions.tar.gz Filtering BED files used to remove noisy regions based of depth of coverage for each sample fig2.csv Input data used for generating figure 2 on the manuscript fig3.zip Input data used for generating figure 3 on the manuscript