Figure S1 Mutational spectra and ratios of Homozygotes (HOM, red) versus Compound Heterozygotes (CH, green) for each of the 6 sample examined (excluding alleles with relative frequencies <1% and grouping alleles with relative frequency between 1% and 2% in the "others" group, when present).

Figure S2qsample CI95% vs q1 plot, for a sample size of n = 25, calculated from a simulated affected population with (a) F = 0.0625 (i.e. patients born to first cousins parents) and (b) F = 0.001 (i.e. patients born to unrelated parents).

Table S1Weighted average F for (a) the Lebanese (b) the Turkish (c) the Israeli Arab, and (d) the Israeli Jews samples of patients born to unrelated individuals. Data taken from the tables

Supplementary material S1 Sample size analysis.

Supplementary material S2 Pedigrees of consanguineous patients with 1st cousin relationships between parents

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