ConDoR: Tumor phylogeny inference with a copy-number constrained mutation loss model Journal Article


Authors: Sashittal, P.; Zhang, H.; Iacobuzio-Donahue, C. A.; Raphael, B. J.
Article Title: ConDoR: Tumor phylogeny inference with a copy-number constrained mutation loss model
Abstract: A tumor contains a diverse collection of somatic mutations that reflect its past evolutionary history and that range in scale from single nucleotide variants (SNVs) to large-scale copy-number aberrations (CNAs). However, no current single-cell DNA sequencing (scDNA-seq) technology produces accurate measurements of both SNVs and CNAs, complicating the inference of tumor phylogenies. We introduce a new evolutionary model, the constrained k -Dollo model, that uses SNVs as phylogenetic markers but constrains losses of SNVs according to clusters of cells. We derive an algorithm, ConDoR, that infers phylogenies from targeted scDNA-seq data using this model. We demonstrate the advantages of ConDoR on simulated and real scDNA-seq data. © 2023, The Author(s).
Keywords: single nucleotide polymorphism; genetics; mutation; neoplasm; neoplasms; animal; animals; mutational analysis; algorithms; algorithm; genomic dna; sequence analysis, dna; birds; phylogeny; dna copy number variations; copy number variation; single cell analysis; phylogenetic tree; dna sequencing; cancer; humans; human; article; intra-tumor heterogeneity; bird; malignant neoplasm; clustering algorithm; k means clustering; tumor phylogeny; dollo model; single-cell dna sequencing; constrained dollo reconstruction
Journal Title: Genome Biology
Volume: 24
ISSN: 1465-6906
Publisher: Biomed Central Ltd  
Date Published: 2023-11-01
Start Page: 272
Language: English
DOI: 10.1186/s13059-023-03106-5
PUBMED: 38037115
PROVIDER: scopus
PMCID: PMC10688497
DOI/URL:
Notes: Article -- Source: Scopus
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