MC4R Analysis with genophenocorr

[frehburg]

• Create a notebook for the analysis
• Copy structure from examples of genophenoorr
• Implement some basics as described below

Transformed to an analysis format, statistical tools were used to perform deep phenotyping and a Genotype-Phenotype correlation. The tool GA4GH genophenocorr was used to perform the Phenopacket based analysis. The following statistical questions.

1. Descriptively, the number of (single) heterozygous and homozygous patients and its distribution of cHGVS mutations.
2. The correlation between class 1-3 obesity until the preventive check up of U9 and c.HGVS mutations comparing the severity of obesity per mutation over time.
3. The influence of the mutations and zygosity on the severity over time was displayed, determining the most severe zygosity and mutation.
4. The combination of the most severe zygosity and mutation was analysed.

[frehburg]

Wait until bug #178 is fixed