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Research area: bioinformatics

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Improving the Power of Structural Variation Detection by Augmenting the Reference

Created on 8th May 2015

Jan Schroeder; Santhosh Girirajan; Anthony T Papenfuss; Paul Medvedev;

The uses of the Genome Reference Consortium's human reference sequence can be roughly categorized into three related but distinct categories: as a representative species genome, as a coordinate system for identifying variants, and as an alignment reference for variation detection algorithms. However, the use of this reference sequence as simultaneously a representative species genome and as an alignment reference leads to unnecessary artifacts for structural variation detection algorithms and limits their accuracy. We 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.

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# Status Date
Lachlan Coin Completed 1 Jun 2015 View review