Evidence for consanguinity in HapMap Phase III individuals.

Pairwise comparisons of IBS were plotted across a chromosome by position for pairs of individuals that had unexpected IBD1 and IBD2 for their relationship type. (A) IBS observations for two parents (YRI father/mother NA18504/NA18505) are shown for chromosome 4. Note region 1 which indicates an absence of IBS0 calls and inferred IBD1 status. (B) IBS measurements between father and son (NA18504/NA18503) are plotted for chromosome 4. Note region 2 in which there are few IBS0 and IBS1 calls thus implying IBD2 status. (C). Genotypes of the son (NA18503) are shown for chromosome 4. Note region 3 in which there is a lack of AB calls, aligning with region 1, thus indicating autozygosity. (D) Ideogram for chromosome 4. (E) IBS observations between two YRI parents (father/mother NA19121/NA19122) are plotted along chromosome 20. Note region 1 in which there is a lack of IBS0 calls indicating an IBD1 region. (F) Genotypes of the son (NA19123) are shown for chromosome 20. Note region 1 in which there are zero AB calls in the same region of IBD1 between the parents implying autozygosity in the child. (G) Ideogram for chromosome 20.