“Having access to large numbers of patient samples as well as computing cluster hardware gives me the opportunity to develop my skills in “big data” storage, analysis and reporting, as well as working to make a difference in the ability to diagnose, and hopefully one day treat, neurodegenerative disease.” – Dan Evans
The Computing and Genetic Statistics group turns sequencer data into information. Our analysis includes reading through gigabytes of sequence data to sift out the changes to the genome that result in modifications to proteins. We exclude common changes, obtain software predictions of the changes on proteins, and summarize the data for the genetics lab.
All variants are inserted into a database, which we can then use for downstream analysis with additional software. Specific sample results can be pooled into data files for either linkage or association analysis, as well as becoming an additional data quality metric for subsequent sequencing.