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Fig. 1 | BMC Medical Genomics

Fig. 1

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

Fig. 1

Genotype classification. The red rectangle indicates the deletion variant and the blue rectangle indicates the insertion variant. The black dotted rectangle indicates that the VAF of the CNV-free region has changed due to the purity of the tumor, the VAF is diluted by tumor purity and the coverage is same as the normal region. The red dotted rectangle indicates that the VAF and the coverage are both changed in the mutated haplotype CNV heterozygote region, where if the coverage of mutated haplotype equals to the wild haplotype, the former features can hardly distinguish the G3 and the G1

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