Table 1 Regions of Homozygosity and Exome Sequencing Chr Start End Length (Mb) CCDS Genes Coverage Variants Detected Potentially Causal Variants 1 12,880,356 20,476,391 7.60 86 84.3% 166 0 1 26,909,765 34,686,130 7.78 102 91.0% 43 2 3 126,380,804 127,502,549 1.12 7 97.9% 5 0 5 98,552,184 99,968,045 1.42 1 100% 0 0 6 34,502,022 36,226,525 1.72 28 95.9% 16 0 7 64,926,823 66,464,764 1.54 10 82.7% 3 0 8 48,639,976 49,656,604 1.02 5 80.5% 3 0 8 85,802,488 86,990,451 1.19 8 89.7% 4 0 11 47,976,882 51,591,253 3.61 13 95.9% 32 0 11 54,794,237 55,943,322 1.15 25 89.4% 52 0 For each homozygous region shared between all three siblings, the table shows genomic coordinates (UCSC Genome Browser hg19), the length (Mb), the number of CCDS genes that lie in the region, the percentage of CCDS bases (including UTRs) covered by exome sequencing, the number of variants detected in that region, and the number of potentially causal variants that remained after filtration, as detailed in the methods. The following abbreviation is used: Chr, chromosome.