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Sequencing of mRNA from Whole Blood using Nanopore Sequencing
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NanoSim: nanopore sequence read simulator based on statistical characterization.

Chen Yang1,2, Justin Chu1,2, René L Warren1

  • 1Canada's Michael Smith Genome Science Centre, British Columbia Cancer Agency, 570 W 7th Avenue, V5Z 4S6 Vancouver, Canada.

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|March 23, 2017
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Summary
This summary is machine-generated.

NanoSim is a new bioinformatics tool that simulates Oxford Nanopore Technologies (ONT) sequencing data. This long-read simulator helps benchmark analysis tools for genome characterization and next-generation sequencing technologies.

Keywords:
NanoSimnanopore sequencingsequence read simulationstatistical modeling

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Area of Science:

  • Bioinformatics
  • Genomics
  • Computational Biology

Background:

  • Oxford Nanopore Technologies (ONT) MinION instruments generate long DNA reads crucial for genome characterization.
  • Developing bioinformatics tools for ONT data requires robust simulation software for benchmarking.
  • Existing tools may not fully capture the unique characteristics of nanopore sequencing data.

Purpose of the Study:

  • Introduce NanoSim, a novel, fast, and scalable read simulator for ONT data.
  • Provide a tool to generate in silico reads that accurately model ONT sequencing characteristics.
  • Facilitate the development and benchmarking of bioinformatics tools for long-read nanopore sequencing.

Main Methods:

  • NanoSim performs read characterization using alignment-based analysis to generate read profiles.
  • A simulation stage utilizes these profiles to produce synthetic reads from a reference genome.
  • The software is implemented in Python and R, capturing technology-specific features of ONT data.

Main Results:

  • NanoSim successfully models base-calling errors characteristic of ONT reads.
  • Performance was showcased on publicly available datasets (R7 and R7.3 chemistries).
  • Synthetic reads generated by NanoSim were compared favorably to experimental ONT reads and other simulators.

Conclusions:

  • NanoSim is expected to play an enabling role in advancing nanopore sequencing technologies.
  • The simulator will benefit the development of software for genome assembly, mutation detection, and metagenomic analysis.
  • NanoSim supports the ongoing improvement of scalable next-generation sequencing technologies.