Supplementary Figure 4: Parametric analysis of genome-wide SNP detection in families 6 and 7.
From: MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Genotyped individuals are numbered in red. The panels depict autosomal LOD score curves following parametric analysis of families 6 and 7 analyzed simultaneously. Parametric parameters were the following: mutation prevalence, 0.0001; phenocopy rate, 0.0; penetrance for homozygosity or compound heterozygosity, 1.0; penetrance for heterozygosity, 0.0. The intervals with LOD score above 3, on chromosomes 10 (containing MMP21) and 13, are indicated with a red bar. The chromosome 10 peak LOD score remained above 3 when penetrance was decreased to 50%. Thresholds of –2 and +3 are indicated by blue lines below and above the line at 0, respectively.
