Figure 1 | Genetics in Medicine

Figure 1

From: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Figure 1

Scatterplot showing sensitivity and specificity of the parameters for homozygosity mapping based on WES analysis optimization. Comparison of homozygous regions derived from single-nucleotide polymorphism (SNP) array and whole-exome sequencing data using a range of parameters: density of 1 SNP in 50, 100, 200, or 10,000 kb; allowing 1, 2, or 3 heterozygous SNPs per window (outlined in grey); and a gap of 1,000, 2,000, 4,000, or 10,000 kb. Calculations are based on data from individuals HSP-1.1, CMT-1.1, CMT-1.2, CMT-2.1, and CMT-3.1. The mean values of specificity and sensitivity are shown.

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