Figure 2.

Rare-het chromosomal mosaicism in four RHH-detected outliers, two of whom were also detected by PLINK. Subjects A8-9-13-7 (A) and B7-7-18-5 (B) exhibit dense rare hets on only a few chromosomes. They are not detected as outliers by PLINK when genotypes are evaluated for the whole genome but are strongly detected when PLINK considers only genotypes from the subject's longest rare-het segment (see Table 2). Subjects A2-6-2-5 (C) and B2-5-2-3 (D) exhibit dense rare hets on most chromosomes and are strongly detected as ethnic outliers when PLINK evaluates the whole genome; but PLINK provides no evidence that the two subjects are outliers when genotypes are only included from regions that lack rare hets (Table 2). These results imply that outlier DNA is largely confined to segments marked by dense rare hets. (See Fig. 1 for definitions of figure annotations.).