Testing for an unusual distribution of rare variants.

Abstract excerpt

Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare variation. Still this approach faces the analytic challenge that the influence of very rare variants can only be evaluated effectively as a group. A further complication is that any given rare variant could have no effect, could increase risk, or could be...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Computer Simulation
• Share to Algorithms