BioinformaticsPLOS ONEPeer-reviewed
Improving the Power of Structural Variation Detection by Augmenting the Reference
Jan Schroeder, Santhosh Girirajan, Anthony T Papenfuss, Paul Medvedev
This paper improves structural variation detection by using a separate alignment reference instead of the standard human genome reference, enhancing accuracy and reducing costs.
DOI 10.1371/journal.pone.0136771