Hello everyone! The past couple of weeks Maddie and I have been taking some time for me to catch up on some work. So far I have been working to finalize my patient table and add the mutations from my table into a diagram of the gene with the amino acids. This helps make it easier to look for patterns. There are many different patterns to look for, so it can sometimes be very overwhelming. For example, some of the patterns that we look for include where in the gene they are, the type of mutation (missense, amino acid, etc.), the severity of the mutation, cluster of mutations, and also for OI, the OI type that the mutation causes.
COL1A1 gene with mutations
New patient table
With school starting in two weeks we are going to begin looking at how these final weeks will finish up. Tomorrow we are going to meet for a Zoom call to talk about anything that I want to learn and anything that Maddie was hoping to teach me. One thing that we will hopefully get to work on is putting the information from my patient table into Python in order to identify more cluster patterns and each mutation’s CADD score (combined annotation dependent depletion).
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