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Approved research

Segmented Analysis of Whole Genomes.

Principal Investigator: Dr Zachary Pitluk
Approved Research ID: 51518
Approval date: January 15th 2020

Lay summary

Most families have a hunch that certain traits and frailties are passed down from one generation to the next or skip generations. For instance, grandmother Mary had a bad knee when young and now her female grandchildren have this. This proposal will establish the usefulness of a different statistical approach to finding genetic drivers of disease that can help to explain how these complex traits and frailties are inherited. We start with a set of patients that are known to have a genetic mutation or weakness that should pre-dispose them to develop a disease and seek to find auxiliary places in the genome that will participate in the evolution of the disease. The auxiliary set of mutations will likely contain some known co-drivers as well as novel co-drivers of disease. This information will be useful for developing tests for disease staging, patient selection, potential novel treatments of existing drugs or nutritional supplements, and for developing new therapeutic interventions. We expect that this project will last for 3 years with confirmatory evidence coming from new phenotype measurements added to UK BioBank.