– Determine what the gene does, according to the literature. Are there already disease/phenotypic associations in humans or animal models?
– Looking at the gene variants in the PMMO dataset: are there mutation carriers in the PMMO?
– Are the variants over- or under-represented in the PMMO compared to gnomAD controls?
– Annotation of the variants what type of mutation is? does it affect an amino acid – how? where in the protein does it occur? What is the evidence that this mutation may affect function?
