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Allele-specific multi-sample copy number segmentation in ASCAT
Author(s) -
Edith Ross,
Kerstin Haase,
Peter Van Loo,
Florian Markowetz
Publication year - 2020
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/btaa538
Subject(s) - segmentation , phylogenetic tree , copy number analysis , allele , inference , copy number variation , biology , computer science , sample (material) , trace (psycholinguistics) , genetics , computational biology , artificial intelligence , genome , gene , chemistry , chromatography , linguistics , philosophy
Allele-specific copy number alterations are commonly used to trace the evolution of tumours. A key step of the analysis is to segment genomic data into regions of constant copy number. For precise phylogenetic inference, breakpoints shared between samples need to be aligned to each other.

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