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iGenomics: Comprehensive DNA sequence analysis on your Smartphone

BACKGROUND: Following the miniaturization of integrated circuitry and other computer hardware over the past several decades, DNA sequencing is on a similar path. Leading this trend is the Oxford Nanopore sequencing platform, which currently offers the hand-held MinION instrument and even smaller ins...

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Detalles Bibliográficos
Autores principales: Palatnick, Aspyn, Zhou, Bin, Ghedin, Elodie, Schatz, Michael C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720420/
https://www.ncbi.nlm.nih.gov/pubmed/33284326
http://dx.doi.org/10.1093/gigascience/giaa138
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author Palatnick, Aspyn
Zhou, Bin
Ghedin, Elodie
Schatz, Michael C
author_facet Palatnick, Aspyn
Zhou, Bin
Ghedin, Elodie
Schatz, Michael C
author_sort Palatnick, Aspyn
collection PubMed
description BACKGROUND: Following the miniaturization of integrated circuitry and other computer hardware over the past several decades, DNA sequencing is on a similar path. Leading this trend is the Oxford Nanopore sequencing platform, which currently offers the hand-held MinION instrument and even smaller instruments on the horizon. This technology has been used in several important applications, including the analysis of genomes of major pathogens in remote stations around the world. However, despite the simplicity of the sequencer, an equally simple and portable analysis platform is not yet available. RESULTS: iGenomics is the first comprehensive mobile genome analysis application, with capabilities to align reads, call variants, and visualize the results entirely on an iOS device. Implemented in Objective-C using the FM-index, banded dynamic programming, and other high-performance bioinformatics techniques, iGenomics is optimized to run in a mobile environment. We benchmark iGenomics using a variety of real and simulated Nanopore sequencing datasets of viral and bacterial genomes and show that iGenomics has performance comparable to the popular BWA-MEM/SAMtools/IGV suite, without necessitating a laptop or server cluster. CONCLUSIONS: iGenomics is available open source (https://github.com/stuckinaboot/iGenomics) and for free on Apple's App Store (https://apple.co/2HCplzr).
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spelling pubmed-77204202020-12-09 iGenomics: Comprehensive DNA sequence analysis on your Smartphone Palatnick, Aspyn Zhou, Bin Ghedin, Elodie Schatz, Michael C Gigascience Research BACKGROUND: Following the miniaturization of integrated circuitry and other computer hardware over the past several decades, DNA sequencing is on a similar path. Leading this trend is the Oxford Nanopore sequencing platform, which currently offers the hand-held MinION instrument and even smaller instruments on the horizon. This technology has been used in several important applications, including the analysis of genomes of major pathogens in remote stations around the world. However, despite the simplicity of the sequencer, an equally simple and portable analysis platform is not yet available. RESULTS: iGenomics is the first comprehensive mobile genome analysis application, with capabilities to align reads, call variants, and visualize the results entirely on an iOS device. Implemented in Objective-C using the FM-index, banded dynamic programming, and other high-performance bioinformatics techniques, iGenomics is optimized to run in a mobile environment. We benchmark iGenomics using a variety of real and simulated Nanopore sequencing datasets of viral and bacterial genomes and show that iGenomics has performance comparable to the popular BWA-MEM/SAMtools/IGV suite, without necessitating a laptop or server cluster. CONCLUSIONS: iGenomics is available open source (https://github.com/stuckinaboot/iGenomics) and for free on Apple's App Store (https://apple.co/2HCplzr). Oxford University Press 2020-12-07 /pmc/articles/PMC7720420/ /pubmed/33284326 http://dx.doi.org/10.1093/gigascience/giaa138 Text en © The Author(s) 2020. Published by Oxford University Press GigaScience. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Palatnick, Aspyn
Zhou, Bin
Ghedin, Elodie
Schatz, Michael C
iGenomics: Comprehensive DNA sequence analysis on your Smartphone
title iGenomics: Comprehensive DNA sequence analysis on your Smartphone
title_full iGenomics: Comprehensive DNA sequence analysis on your Smartphone
title_fullStr iGenomics: Comprehensive DNA sequence analysis on your Smartphone
title_full_unstemmed iGenomics: Comprehensive DNA sequence analysis on your Smartphone
title_short iGenomics: Comprehensive DNA sequence analysis on your Smartphone
title_sort igenomics: comprehensive dna sequence analysis on your smartphone
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720420/
https://www.ncbi.nlm.nih.gov/pubmed/33284326
http://dx.doi.org/10.1093/gigascience/giaa138
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