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

BMC Medical Genomics

Table 2 Performance comparison on simulated datasets

Copy Number	Coverage	The proposed method	Gindel	Facets	GATK
2	5 ×	0.8100	0.3054	0.4710	0.5328
	10 ×	0.8353	0.5342	0.5125	0.8157
	15 ×	0.8477	0.5728	0.5125	0.7697
	20 ×	0.8510	0.6175	0.5150	0.7039
3	5 ×	0.8142	0.4137	0.4713	0.7368
	10 ×	0.8195	0.4205	0.4912	0.4539
	15 ×	0.8168	0.4273	0.5124	0.8157
	20 ×	0.8195	0.4296	0.4625	0.8355
4	5 ×	0.8234	0.4296	0.5467	0.2560
	10 ×	0.8247	0.4201	0.5626	0.5942
	15 ×	0.8234	0.4268	0.5672	0.6714
	20 ×	0.8395	0.4336	0.5695	0.7101
5	5 ×	0.8313	0.4796	0.5573	0.3125
	10 ×	0.8358	0.4877	0.5630	0.6057
	15 ×	0.8356	0.4905	0.5645	0.6153
	20 ×	0.8413	0.4592	0.5680	0.7788

ISSN: 1755-8794