IDENTIFICATION AND CHARACTERISATIONS OF RARE GENETIC VARIANTS (CISD2) IN A GROUP OF NHS PATIENTS BEING TREATED FOR SEVERE OBESITY.
Paper details:
I need the writer to do the full dissertation and I want him to explain me how he uses R software to interpret the results and construct the graphs.
Methodology:
– Use e a test of proportions to check whether the frequency of a particular variant in the PMMO differs from its frequency in the general population (gnomAD controls).
– Check the reliability of the genotyping by visual examination of cluster plots. If the cluster plots are convincing then I will annotate these variants to assess how they might exert their effects by Combined Annotation Dependent Depletion (CADD score).
– 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?
If time allows, repeat this analysis with related genes
