Figure 1.

Genome-wide homozygosity. This screen shot shows the genome-wide homozygosity scores produced by HomozygosityMapper. These are plotted as a bar chart with red bars indicating the most promising genomic regions. Clicking on a bar will zoom into the chromosome. Above the bar chart, the excess or shortage of homozygous genotypes in cases versus controls is depicted. Below the figure, direct links to the most interesting regions are given and data export possibilities are provided. All figures depict the Carpenter syndrome study (6).