PlasmaMutationDetector2 - Tumor Mutation Detection in Plasma using Barcoding
Aims at detecting single nucleotide variation (SNV) and
insertion/deletion (INDEL) in circulating tumor DNA (ctDNA),
used as a surrogate marker for tumor, at each base position of
an Next Generation Sequencing (NGS) analysis using barcoding.
Mutations are assessed by comparing the minor-allele frequency
at each position to the measured PER in control samples. This
package has been used for Kjersti Tjensvoll, Morten Lapin,
Bjørnar Gilje, Herish Garresori, Satu Oltedal, Rakel Brendsdal
Forthun, Anders Molven, Yves Rozenholc and Oddmund
N\o{o}rdgaard (2022)
<https://www.nature.com/articles/s41598-022-09698-5>.
