Visualizing Chromosome Mosaicism and Detecting Ethnic Outliers by the Method of "Rare" Heterozygotes and Homozygotes (RHH)
- McGinnis, RE
- Deloukas, P
- McLaren, WM
- Inouye, M
DOIAbstract
We describe a novel approach for evaluating SNP genotypes of a genome-wide association scan to identify "ethnic outlier" subjects whose ethnicity is different or admixed compared to most other subjects in the genotyped sample set. Each ethnic outlier is detected by counting a genomic excess of "rare" heterozygotes and/or homozygotes whose frequencies are low (<1%) within genotypes of the sample set being evaluated. This method also enables simple and striking visualization of non-Caucasian chromosomal DNA segments interspersed within the chromosomes of ethnically admixed individuals. We show that this visualization of the mosaic structure of admixed human chromosomes gives results similar to another visualization method (SABER) but with muc...
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