Minimal Residual Disease testing

test_ctDNA()

Tests the ctDNA positivity of a sample

create_background_panel()

Creates a background panel from a list of bam files

create_black_list()

Creates a black list of genomic loci based on a background panel created from a list of bam files (e.g. healthy samples)

merge_mutations_in_phase()

Collapses mutations in phase into one event

get_mutations_read_counts()

Counts ref and alt reads for a set of mutations

get_mutations_read_names()

Gets names of the reads showing reference and alternative allele of a list of mutations

get_background_rate()

Computes the background mismatch rate from a bam file

filter_mutations()

Filters a set of mutations

Fragmentation

get_fragment_size()

Gets fragment lengths from a bam file

bin_fragment_size()

Gets histogram of fragment lengths from a bam file

summarize_fragment_size()

Summarizes fragment size in defined genomic regions

analyze_fragmentation()

Provides fragment ends analysis

get_mutations_fragment_size()

Gets reads fragment lengths for a list of mutations

Other

extract_trinucleotide_context()

Extracts the trinucleotide context for a set of mutations

vcf_to_mutations_df()

Helper function to read a vcf into the required format of mutations data frame

Data

mutations

Example mutations data to use with ctDNAtools package

targets

Example Genomic targets to use with ctDNAtools package