Abstract

BackgroundResearch in genetics has developed rapidly recently due to the aid of next generation sequencing (NGS). However, massively-parallel NGS produces enormous amounts of data, which leads to storage, compatibility, scalability, and performance issues. The Cloud Computing and MapReduce framework, which utilizes hundreds or thousands of shared computers to map sequencing reads quickly and efficiently to reference genome sequences, appears to be a very promising solution for these issues. Consequently, it has been adopted by many organizations recently, and the initial results are very promising. However, since these are only initial steps toward this trend, the developed software does not provide adequate primary functions like bisulfite, pair-end mapping, etc., in on-site software such as RMAP or BS Seeker. In addition, existing MapReduce-based applications were not designed to process the long reads produced by the most recent second-generation and third-generation NGS instruments and, therefore, are inefficient. Last, it is difficult for a majority of biologists untrained in programming skills to use these tools because most were developed on Linux with a command line interface.ResultsTo urge the trend of using Cloud technologies in genomics and prepare for advances in second- and third-generation DNA sequencing, we have built a Hadoop MapReduce-based application, CloudAligner, which achieves higher performance, covers most primary features, is more accurate, and has a user-friendly interface. It was also designed to be able to deal with long sequences. The performance gain of CloudAligner over Cloud-based counterparts (35 to 80%) mainly comes from the omission of the reduce phase. In comparison to local-based approaches, the performance gain of CloudAligner is from the partition and parallel processing of the huge reference genome as well as the reads. The source code of CloudAligner is available at http://cloudaligner.sourceforge.net/ and its web version is at http://mine.cs.wayne.edu:8080/CloudAligner/.ConclusionsOur results show that CloudAligner is faster than CloudBurst, provides more accurate results than RMAP, and supports various input as well as output formats. In addition, with the web-based interface, it is easier to use than its counterparts.

Highlights

  • Research in genetics has developed rapidly recently due to the aid of generation sequencing (NGS)

  • With the improvement in sequencing technology, the data generated by the sequencers is becoming cheaper and better

  • More data is increasingly being generated which leads to serious issues in storing and processing

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Summary

Introduction

Research in genetics has developed rapidly recently due to the aid of generation sequencing (NGS). The Cloud Computing and MapReduce framework, which utilizes hundreds or thousands of shared computers to map sequencing reads quickly and efficiently to reference genome sequences, appears to be a very promising solution for these issues It has been adopted by many organizations recently, and the initial results are very promising. Existing MapReduce-based applications were not designed to process the long reads produced by the most recent second-generation and third-generation NGS instruments and, are inefficient. The rapid development of new sequencing technologies helps improve the accuracy as well as scope of many biological applications such as the assembly of genomes, transcriptomes (RNAs), or ChIP-Seq (chromatin-immunoprecipitation followed by next-generation DNA sequencing) Most of these applications execute the read alignment as their first step. The third-generation single molecule sequencing instruments are beginning to be introduced by Pacific Biosciences at a much reduced reagent cost and longer sequences

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