Material for “ A direct characterization of human mutation based on microsatellites ”

Supplementary Figure 1. Removal of trios due to potential false‐parenthood............................................ 2 Supplementary Figure 2. Estimated genotype error rate per locus ............................................................. 3 Supplementary Figure 3. Similarity between trio and family data in mutational length distribution ......... 4 Supplementary Figure 4. Mutations by locus and by trio ............................................................................. 5 Supplementary Figure 5. False‐positive mutations from the trio approach ................................................ 6 Supplementary Figure 6. Predictors of mutation rate and direction (logistic regression) ........................... 7 Supplementary Figure 7. Imperfect repeats have a lower mutation rate .................................................... 8 Supplementary Figure 8. Length constraints in microsatellites (raw) .......................................................... 9 Supplementary Figure 9. Length constraints in microsatellites (binned) ................................................... 10 Supplementary Figure 10. Sensitivity analysis of evolution model ............................................................ 11 Supplementary Figure 11. Sequence divergence versus microsatellite ASD for 23 HapMap individuals .. 12 Supplementary Figure 12. Inferred sequence mutation rate of 23 individuals .......................................... 15 Supplementary Figure 13. Demographic model for coalescent simulation ............................................... 17 Supplementary Figure 14. Heterozygosity: CGI versus Illumina ................................................................. 18 Supplementary Figure 15. Genetic windows for sequence heterozygosity ............................................... 19 Supplementary Figure 16. UCSC web query for obtaining microsatellite information .............................. 20 Supplementary Figure 17. Distribution of parental age at child‐birth ....................................................... 21 Supplementary Table 1. Experimental validation of mutations ................................................................. 22 Supplementary Table 2. Validation of 14 microsatellite mutations with next generation sequence data 23 Supplementary Table 3. Di‐nucleotide microsatellite mutations by motif type ........................................ 25 Supplementary Table 4. Differences in ................................................................................................... 26 Supplementary Table 5. Predictors of the mutation process ..................................................................... 27 Supplementary Table 6. Interactions between covariates ......................................................................... 28 Supplementary Table 7. Bayesian parameters for evolution modeling ..................................................... 30 Supplementary Table 8. Mutation rate estimates and sequence heterozygosities in 23 individuals ........ 31 Supplementary Table 9. Ascertainment bias around microsatellite loci .................................................... 32 Supplementary Notes ................................................................................................................................. 33 References .................................................................................................................................................. 67