Improving the power of structural variation detection by augmenting the reference
- Author(s)
- Schroder, J; Girirajan, S; Papenfuss, AT; Medvedev, P;
- Details
- Publication Year 2015,Volume 10,Issue #8,Page e0136771
- Journal Title
- PLoS One
- Publication Type
- Journal Article
- Abstract
- 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.
- Publisher
- PLOS
- Research Division(s)
- Bioinformatics
- PubMed ID
- 26322511
- Publisher's Version
- https://doi.org/10.1371/journal.pone.0136771
- Open Access at Publisher's Site
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136771- NHMRC Grants
- NHMRC/1054618,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2015-09-24 02:12:28
Last Modified: 2015-10-23 02:55:09