Rare genetic variants 2022 Best

Rare genetic variants

This paper focuses on identification and characterizations of rare genetic variants (CISD2). Paper details: use 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).

Rare genetic variants

Identification and characterizations of rare genetic variants (CISD2).  IN A GROUP OF NHS PATIENTS BEING TREATED FOR SEVERE OBESITY. Paper details: use 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).

Rare genetic variants

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. https://youtu.be/TKFKcwGsXDc

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