Allele-specific multi-sample copy number segmentation in ASCAT

被引：16
|
作者：
Ross, Edith M. [1 ]
Haase, Kerstin [2 ]
Van Loo, Peter [2 ]
Markowetz, Florian [1 ]
机构：
[1] Univ Cambridge, Canc Res UK Cambridge Inst, Cambridge CB2 0RE, England
[2] Francis Crick Inst, London NW1 1AT, England
来源：
BIOINFORMATICS | 2021年 / 37卷 / 13期
基金：
英国医学研究理事会; 英国惠康基金;
关键词：
D O I：
10.1093/bioinformatics/btaa538
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
Motivation: 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. Results: Here, we present asmultipcf, an algorithm for allele-specific segmentation of multiple samples that infers private and shared segment boundaries of phylogenetically related samples. The output of this algorithm can directly be used for allele-specific copy number calling using ASCAT.
引用
收藏
页码：1909 / 1911
页数：3
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