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Yu Zhang, Tianhua Niu, Jun S. Liu 

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1 A Coalescence-Guided Hierarchical Bayesian Method for Haplotype Inference 
Yu Zhang, Tianhua Niu, Jun S. Liu  The American Journal of Human Genetics  Volume 79, Issue 2, Pages (August 2006) DOI: /506276 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Schematic diagram of CHB. Hyperparameter ϴ* represents the frequencies of ancestral haplotypes from which the current samples are descended. Assuming a robust star-like topology, we derive the prior expectation of the modern-day haplotype frequencies, ϴ, as f(ϴ*), which takes into consideration both mutation and recombination events. Each haplotype consists of four SNPs, with 0 and 1 indicating the two alternative alleles. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Mean error rates of CHB-NR (triangles), PHASE-NR (squares), and HAPLOTYPER (diamonds), for coalescence-based simulation data sets with no missing genotypes (left panel) or 30% missing genotypes (right panel). The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Mean error rates and SEs of CHB-NR (white), PHASE-NR (black), and HAPLOTYPER (gray), for Whitehead IBD data sets with no missing genotypes (left panel) or 30% missing genotypes (right panel). The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Mean error rates and SEs of CHB-NR (white), PHASE-NR (black), and HAPLOTYPER (gray), for HapMap data sets without recombination and with no missing genotypes (left panels) or 30% missing genotypes (right panels). Upper panels, European ancestry. Lower panels, African ancestry. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Mean error rates and SEs of CHB-NR (white), CHB-R (light gray), PHASE-NR (black), and PHASE-R (dark gray), for HapMap data sets with recombination hotspots and with no missing genotypes (left panels) or 30% missing genotypes (right panels). Upper panels, European ancestry. Lower panels, African ancestry. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

7 Figure 6 CHB recombination estimation (upper panel) compared with the HapMap report of recombination rates for 1,081 SNPs across a 3-Mb region (lower panel). The upper panel displays the estimated average recombination probabilities across four populations from the HapMap project. Only values >0.1, which correspond to the highest 10% of recombination probabilities, are shown. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

8 Figure B1 Difference of phasing accuracy by running PHASE with 10 times number of iterations. M = mutation-only data; M+R = data in which both mutation and recombination are involved; +30% = data sets with 30% missing genotypes. Upper panel, HapMap data sets with European ancestry. Lower panel, HapMap data sets with African ancestry. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

9 Figure B2 Comparison between CHB-NR (triangles) and PHASE-NR (squares) on coalescence-based simulated data set (a), Whitehead IBD data set (b), and two HapMap data sets with no recombination: CEU (c) and YRI (d). In addition, the comparison between CHB-R (triangles) and PHASE-R (squares) of data sets with recombination hotspots is shown for CEU (e) and YRI (f). From each data set, 10% of genotypes were randomly removed. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

10 Figure B3 Comparison among CHB-NR (white), PHASE-NR (black), and HAPLOTYPER (gray) on TAP2 data sets with no missing genotypes (left panel) or 30% missing genotypes (right panel). The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

11 Figure B4 Comparison between CHB-NR (triangles), PHASE-NR (squares) and HAPLOTYPER (diamonds) on HapMap data sets with no recombinations from different populations: a, Han Chinese population with no missing genotypes; b, Japanese population with no missing genotypes; c, Han Chinese population with 10% missing genotypes; d, Japanese population with 10% missing genotypes; e, Han Chinese population with 30% missing genotypes; f, Japanese population with 30% missing genotypes. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

12 Figure B5 Comparison between CHB-NR (white), CHB-R (light gray), PHASE-NR (black) and PHASE-R (dark gray) on HapMap data sets with recombination hotspots from different populations: a, Han Chinese population with no missing genotypes; b, Japanese population with no missing genotypes; c, Han Chinese population with 10% missing genotypes; d, Japanese population with 10% missing genotypes; e, Han Chinese population with 30% missing genotypes; f, Japanese population with 30% missing genotypes. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

13 Figure B6 Comparison between CHB-NR (white), CHB-R (light gray), PHASE-NR (black), and PHASE-R (dark gray) on HapMap data sets with moderate recombinations from different populations: a, European population with no missing genotypes; b, African population with no missing genotypes; c, European population with 10% missing genotypes; d, African population with 10% missing genotypes; e, European population with 30% missing genotypes; f, African population with 30% missing genotypes. The American Journal of Human Genetics  , DOI: ( /506276) Copyright © 2006 The American Society of Human Genetics Terms and Conditions


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