Open AccessReconstructing tumor clonal lineage trees incorporating single-nucleotide variants, copy number alterations and structural variations
Author(s) -
Xuecong Fu,
Hongwei Lei,
Yifeng Tao,
Russell Schwartz
Publication year - 2022
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btac253
Subject(s) - phylogenetic tree , biology , somatic evolution in cancer , copy number variation , subtyping , computational biology , inference , phylogenetics , indel , lineage (genetic) , genetics , evolutionary biology , single nucleotide polymorphism , computer science , genome , cancer , gene , genotype , artificial intelligence , programming language
Cancer develops through a process of clonal evolution in which an initially healthy cell gives rise to progeny gradually differentiating through the accumulation of genetic and epigenetic mutations. These mutations can take various forms, including single-nucleotide variants (SNVs), copy number alterations (CNAs) or structural variations (SVs), with each variant type providing complementary insights into tumor evolution as well as offering distinct challenges to phylogenetic inference.