GNATY: Optimized NGS Variant Calling and Coverage Analysis

Conference paper

DOI: 10.1007/978-3-319-31744-1_40

Part of the Lecture Notes in Computer Science book series (LNCS, volume 9656)
Cite this paper as:
Wolf B., Kuonen P., Dandekar T. (2016) GNATY: Optimized NGS Variant Calling and Coverage Analysis. In: Ortuño F., Rojas I. (eds) Bioinformatics and Biomedical Engineering. IWBBIO 2016. Lecture Notes in Computer Science, vol 9656. Springer, Cham

Abstract

Next generation sequencing produces an ever increasing amount of data, requiring increasingly fast computing infrastructures to keep up. We present GNATY, a collection of tools for NGS data analysis, aimed at optimizing parts of the sequence analysis process to reduce the hardware requirements. The tools are developed with efficiency in mind, using multithreading and other techniques to speed up the analysis. The architecture has been verified by implementing a variant caller based on the Varscan 2 variant calling model, achieving a speedup of nearly 18 times. Additionally, the flexibility of the algorithm is also demonstrated by applying it to coverage analysis. Compared to BEDtools 2 the same analysis results were found but in only half the time by GNATY. The speed increase allows for a faster data analysis and more flexibility to analyse the same sample using multiple settings. The software is freely available for non-commercial usage at http://gnaty.phenosystems.com/.

Keywords

Next generation sequencing Variant calling Algorithmics 

Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Insitute of Complex SystemsUniversity of Applied Sciences Western SwitzerlandFribourgSwitzerland
  2. 2.University of Würzburg, Biozentrum Universität WürzburgWürzburgGermany

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