Lessons on variant hunting in next-gen data sets

Ryan Sprissler

Understanding the general process of how to make sense of next-gen sequencing results as they pertain to human disease. Specifically, when we sequence the whole exomes (about 20,000 genes) of patients with rare disease how do we ultimately determine and classify the results we find. As whole genome and whole exome genetic testing becomes a more common tool for rare disease diagnosis we are slowly learning how to look through all of the noise to find the probable causative variant/mutation. We have learned a great deal through trial and error how to zero in on what we think will be the most pertinent and valuable for the clinicians and ultimately most important for  the patient.