Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses

Figure 1

Filtering of variants from high-throughput Illumina sequencing analysis of six Haflingers phenotyped for ocular SCC. These filtering parameters were established for the most robust analysis to identify any potential variant from the associated ECA12 haplotype that may explain the prevalence for ocular SCC in Haflinger horses. Filter 1 was used to categorize variants based on the strictest parameters in order to identify variants more concordant with the ocular SCC phenotype than the DDB2 variant. Filter 2 used slightly less strict filtering of variants by allowing one of the control horses to genotype homozygous alternate for that variant. Lastly, filter 3 used the least stringent filtering by allowing for one or more affected horses to genotype as homozygous reference or heterozygous for that variant. On the diagram, N/A signifies any genotype.