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Article

Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants.

Genomics, proteomics & bioinformatics - 1 Feb 2022

Lin Jiadong, Yang Xiaofei, Kosters Walter, Xu Tun, Jia Yanyan, Wang Songbo, Zhu Qihui, Ryan Mallory, Guo Li, Zhang Chengsheng, Lee Charles, Devine Scott E, Eichler Evan E, Ye Kai

Abstract excerpt

Complex structural variants (CSVs) are genomic alterations that have more than two breakpoints and are considered as the simultaneous occurrence of simple structural variants. However, detecting the compounded mutational signals of CSVs is challenging through a commonly used model-match strategy. As a result, there has been limited progress for CSV discovery compared with simple structural variants. Here, we...

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Identifiers

PMID: 34224879
DOI: 10.1016/j.gpb.2021.03.007
PMCID: PMC9510932

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