Supplementary Figure 2: Homozygosity mapping. | Nature Genetics

Supplementary Figure 2: Homozygosity mapping.

From: Biallelic mutations in human DCC cause developmental split-brain syndrome

Supplementary Figure 2

(a) Homozygosity analysis of the two affected individuals of Family 1 identified multiple regions of homozygosity across the genome. Observed homozygosity for the two siblings (II:5 and II:7) was 3.9% and 4.9% of the genome. (b) The observation is consistent with first and second cousin marriage (expectation 6.25% and 1.56%, respectively, as illustrated in the bottom figure; however, the distributions are broad, and there is not enough information to distinguish between the two). Note: only homozygous regions with 2 cM or longer are shown.

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