Quantitative & Chemical Biology Program at Vanderbilt

David Samuels Lab

The MEGA chip used in BioVU contains many rare variants that are valuable for research due to how these variants are more likely to cause disease. Despite how valuable these variants are to research, their calling is often considered unreliable due to a concern of false positives. My project focuses on using computational methods to test whether data from reconstructed pedigrees and shared segments between individuals can be used to gain confidence in these rare variant calls.