Improving the power of structural variation detection by augmenting the reference
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
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
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