Fig. 5: Phasing and imputation at TRs.

a Imputation accuracy decreases with heterozygosity. The x-axis denotes TR heterozygosity. The y-axis denotes the mean concordance for TRs in each heterozygosity bin based on a Leave-One-Out analysis on chromosome 21. b TRs are often tagged by common SNPs. The x-axis denotes the number of common alleles (frequency > 0.01) for each TR. The y-axis denotes the mean LD (r²) of the best tag SNP for TRs in each bin. For (a, b), colors denote 1000 Genomes superpopulation. c Distribution of the distance between each TR and its best tag SNP. The y-axis is given on a log₁₀ scale.