Rare genetic Variant (CISD2) in relation to Wolfram Syndrome 2

    Title: Identification and characterisations of rare genetic variants (CISD2) in a group of NHS patients being treated for severe obesity. The results data for this dissertation can be found at https://wetransfer.com/downloads/77c9f7e19c62d9dbc5332effb46f810420221117020410/7a12ac? utm_campaign=TRN_TDL_05&utm_source=sendgrid&utm_medium=email&trk=TRN_TDL_05 - 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 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. Layout: (Explained in the assessment brief attached under the files section) - Abstract - Introduction - Aims - Methods - Results - Discussion - General Matters Show less