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Genome Biol ; 23(1): 241, 2022 11 14.
Artículo en Inglés | MEDLINE | ID: mdl-36376909

RESUMEN

Aneuploidy, chromosomal instability, somatic copy-number alterations, and whole-genome doubling (WGD) play key roles in cancer evolution and provide information for the complex task of phylogenetic inference. We present MEDICC2, a method for inferring evolutionary trees and WGD using haplotype-specific somatic copy-number alterations from single-cell or bulk data. MEDICC2 eschews simplifications such as the infinite sites assumption, allowing multiple mutations and parallel evolution, and does not treat adjacent loci as independent, allowing overlapping copy-number events. Using simulations and multiple data types from 2780 tumors, we use MEDICC2 to demonstrate accurate inference of phylogenies, clonal and subclonal WGD, and ancestral copy-number states.


Asunto(s)
Neoplasias , Humanos , Filogenia , Neoplasias/genética , Neoplasias/patología , Variaciones en el Número de Copia de ADN , Exoma , Genoma Humano
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