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iGenomics: Comprehensive DNA sequence analysis on your Smartphone.

Aspyn Palatnick1,2,3, Bin Zhou4, Elodie Ghedin4,5

  • 1Cold Spring Harbor High School, 82 Turkey Lane, Cold Spring Harbor, NY 11724, USA.

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|December 7, 2020
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Summary
This summary is machine-generated.

A new mobile app, iGenomics, provides portable genome analysis for Oxford Nanopore sequencing data. This tool offers comparable performance to traditional desktop software, enabling on-the-go genomic analysis.

Keywords:
DNA sequencingmobile computingvariant analysis

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Area of Science:

  • Bioinformatics
  • Genomics
  • Mobile Computing

Background:

  • DNA sequencing technology is rapidly miniaturizing, following trends in computer hardware.
  • Oxford Nanopore sequencing platforms, like the MinION, enable portable DNA sequencing.
  • A need exists for equally simple and portable analysis tools for portable sequencing data.

Purpose of the Study:

  • To introduce iGenomics, the first comprehensive mobile genome analysis application.
  • To enable on-device genome analysis, including read alignment, variant calling, and visualization.
  • To provide a portable alternative to traditional laptop or server-based bioinformatics workflows.

Main Methods:

  • Developed iGenomics as an iOS application using Objective-C.
  • Implemented high-performance bioinformatics algorithms like FM-index and banded dynamic programming.
  • Optimized the application for efficient mobile environment performance.

Main Results:

  • iGenomics successfully performs genome analysis, including read alignment, variant calling, and visualization on an iOS device.
  • Benchmarking with Nanopore sequencing datasets (viral and bacterial) shows performance comparable to established tools (BWA-MEM/SAMtools/IGV).
  • The application eliminates the need for external computational resources like laptops or server clusters for analysis.

Conclusions:

  • iGenomics offers a powerful and convenient solution for mobile genome analysis.
  • The application democratizes access to portable genomic data analysis.
  • iGenomics is available open-source and free on the Apple App Store.