Improving the Power of Structural Variation Detection by Augmenting the Reference
Improving the Power of Structural Variation Detection by Augmenting the Reference is a scholarly work by Anthony T. Papenfuss, published in 2015 in ''PLOS One''. The main subjects of the publication include RNA sequencing, computer science, biology, computational biology, and Variation (astronomy). The authors show how decoupling these two references and developing a separate alignment reference can significantly improve the accuracy of structural variation detection, lead to improved genotyping of disease related genes, and decrease the cost of studying polymorphism in a population.