Estimating Kinship in Admixed Populations

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Estimating Kinship in Admixed Populations Timothy Thornton, Hua Tang, Thomas J. Hoffmann, Heather M. Ochs-Balcom, Bette J. Caan, Neil Risch  The American Journal of Human Genetics  Volume 91, Issue 1, Pages 122-138 (July 2012) DOI: 10.1016/j.ajhg.2012.05.024 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Kinship Coefficients Plotted against Zero-IBD-Sharing Probabilities Estimated kinship coefficients plotted against zero-IBD-sharing-probability estimates for three population-structure settings. (A, C, and E) Scatter plots comparing the REAP kinship-coefficient estimator from Equation 3 with the REAP zero-IBD-sharing-probability estimator from Equation 4 for population-structure settings 1 (A), 2 (C), and 3 (E). (B, D, and F) Scatter plots comparing the homogeneous-population kinship-coefficient estimator from Equation 1 with the homogeneous-population zero-IBD-sharing-probability estimator from Equation 2 for population-structure settings 1 (B), 2 (D), and 3 (F). Zero-IBD-sharing-probability and kinship-coefficient estimates were calculated with 10,000 simulated random SNPs. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 KING-Robust and REAP Kinship-Coefficient Histograms for Unrelated Pairs with Admixture (A and B) Histograms of kinship coefficients estimated with the KING-robust kinship-coefficient estimator (A) and the REAP kinship-coefficient estimator from Equation 3 (B) for all pairs of unrelated individuals in population-structure setting 2. The vertical line at 0 in each histogram represents the true kinship coefficient for all pairs. Kinship-coefficient estimates were calculated with 10,000 simulated random SNPs. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 Individual-Ancestry Estimates for HapMap MXL Individual-ancestry estimates for 86 HapMap MXL sample individuals from a supervised structure analysis with the frappe software program. In the figure, each individual is represented by a vertical bar; European (HapMap CEU) and African (HapMap YRI) ancestry contributions are in blue and red, respectively, and Native American (HGDP samples from the Americas) ancestry contributions are in green. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 4 REAP Kinship Coefficients versus Zero-IBD-Sharing Probabilities for HapMap MXL REAP kinship-coefficient estimates are plotted against REAP zero-IBD-sharing-probability estimates for the HapMap MXL sample. REAP estimates were calculated with the kinship-coefficient and zero-IBD-sharing-probability estimators from Equations 3 and 4, respectively. Relative pairs were classified on the basis of kinship-coefficient and zero-IBD-sharing-probability estimates. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 5 Example of an Extended Pedigree Reconstructed with REAP in HapMap MXL REAP-inferred pedigree relationships for four HapMap-reported pedigrees from the MXL sample are given. HapMap-reported pedigree relationships are circled, and HapMap-reported pedigree identification numbers (M008, 2382, M011, and M012) are given in bold font in each of the circles. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 6 Example of Two HapMap MXL Pedigrees Connected with REAP Pedigree relationships for two HapMap-reported pedigrees from the MXL sample are given. HapMap-reported pedigree relationships are circled, and HapMap-reported pedigree identification numbers (M007 and M032) are given in bold font in each of the circles. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 7 REAP Kinship Coefficients versus Zero-IBD-Sharing Probabilities for WHI-SHARe (A and B) REAP kinship-coefficient estimates are plotted against REAP zero-IBD-sharing-probability estimates for the WHI-SHARe self-reported African Americans and self-reported Hispanics, respectively. REAP estimates were calculated with the kinship-coefficient and zero-IBD-sharing-probability estimators from Equations 3 and 4, respectively. The American Journal of Human Genetics 2012 91, 122-138DOI: (10.1016/j.ajhg.2012.05.024) Copyright © 2012 The American Society of Human Genetics Terms and Conditions