Detection limit of homozygosity by descent using 250 K SNP array.

For individuals, in which total genome search yielded a single cZLR peak (homozygosity peak) that contains the homozygous disease-causing mutation, the width of the cZLR peak is marked with an asterisk. Note that the detection limit for homozygosity by descent was at 2.10 Mb. cZLR, consistent likelihood ratio z-score (see Figure S1); NA, not applicable; nc, negative control individual with a known compound heterozygous mutation.