Figure 2.

Homozygosity mapping of fosse and ugli reveals distinct causal genetic loci associated with these two highly similar phenotypes. (A) Our homozygosity mapping of six affected individuals indicates that the fosse causal variant is located on chromosome 8. (B) Our remaining two samples’ combined homozygosity mapping results highlighted homozygous regions of interest on chromosomes 4, 5, and 18. Both maps were generated using windows 10 Mb in size with a 1 Mb overlap to calculate all three variables shown. Average naf indicates the average frequency of the nonreference allele in all putative ENU SNPs within a window. Hom count refers to the number of homozygous SNPs within each window, whereas hom percentage is the percentage of SNPs that were called homozygous. Regions of interest should have high average naf (likely ENU-induced), and high homozygous counts and percentages. ENU, N-ethyl-N-nitrosourea; hom, homozygous; naf, novel allele frequency; SNP, single nucleotide polymorphism.