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Article

A machine learning framework for genotyping the structural variations with copy number variant.

BMC medical genomics - 27 Aug 2020

Zheng Tian, Zhu Xiaoyan, Zhang Xuanping, Zhao Zhongmeng, Yi Xin, Wang Jiayin, Li Hongle

Abstract excerpt

BACKGROUND: Genotyping of structural variation is an important computational problem in next generation sequence data analysis. However, in cancer genomes, the copy number variant(CNV) often coexists with other types of structural variations which significantly reduces the accuracy of the existing genotype methods. The bias on sequencing coverage and variant allelic frequency can be observed on a CNV region,...

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PMID: 32854699
DOI: 10.1186/s12920-020-00733-w
PMCID: PMC7450592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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