CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

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Figure 4.
Figure 4.

Examples of multi-allelic loci. (A) Tri-allelic locus with CN0, CN1, and CN2 is at Hardy-Weinberg equilibrium. (B) Distribution of genotypes across a population can be explained by hexa-allelic locus with CN0–CN5. (C) Tri-allelic locus that is not at Hardy-Weinberg equilibrium, which may indicate natural selection. In this case, the distribution of genotypes peaks around 3, with the likely explanation that an equal proportion of CN1 and CN2 alleles at this locus dominate the population. This, in turn, implies balancing selection.

This Article

  1. Genome Res. 21: 974-984

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