Copy number variation detection and genotyping from exome sequence data

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Figure 3.
Figure 3.

Genotyping accuracy across 62 CNP loci. (A) Distribution of correlation coefficients of SVD-ZRPKM to whole-genome copy number estimate (Sudmant et al. 2010) across 62 CNP loci for seven HapMap samples, split by the median copy number of each locus. For loci with copy number less than eight, 32/39 had strong correlations between exome and whole-genome estimates, indicating that exome-based SVD-ZRPKM can be used to genotype such loci. (B) Results from unsupervised clustering algorithm for 43 autosomal loci for which genotype information was available (Campbell et al. 2011).

This Article

  1. Genome Res. 22: 1525-1532

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