Sample VCF generated by extracting CEU individual (sample NA06984) from the 1000 Genomes Project. Two DHODH variants implicated for Miller Syndrome in kindred 1 in the oft cited Ng et al. were spiked into this genome.
Sample phenotype file created by extracting HPO terms describing symptoms of Miller Syndrome patients from Phenomizer.
Sample PED file contains a single patient with the disorder.
For this example, Phen-Gen identifies 5 candidate genes with DHODH correctly ranked as the top gene.