Cargando…

Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows

While Next-Generation Sequencing (NGS) can now be considered an established analysis technology for research applications across the life sciences, the analysis workflows still require substantial bioinformatics expertise. Typical challenges include the appropriate selection of analytical software t...

Descripción completa

Detalles Bibliográficos
Autores principales: Kulkarni, Pranav, Frommolt, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683667/
https://www.ncbi.nlm.nih.gov/pubmed/29158876
http://dx.doi.org/10.1016/j.csbj.2017.10.001
_version_ 1783278337096941568
author Kulkarni, Pranav
Frommolt, Peter
author_facet Kulkarni, Pranav
Frommolt, Peter
author_sort Kulkarni, Pranav
collection PubMed
description While Next-Generation Sequencing (NGS) can now be considered an established analysis technology for research applications across the life sciences, the analysis workflows still require substantial bioinformatics expertise. Typical challenges include the appropriate selection of analytical software tools, the speedup of the overall procedure using HPC parallelization and acceleration technology, the development of automation strategies, data storage solutions and finally the development of methods for full exploitation of the analysis results across multiple experimental conditions. Recently, NGS has begun to expand into clinical environments, where it facilitates diagnostics enabling personalized therapeutic approaches, but is also accompanied by new technological, legal and ethical challenges. There are probably as many overall concepts for the analysis of the data as there are academic research institutions. Among these concepts are, for instance, complex IT architectures developed in-house, ready-to-use technologies installed on-site as well as comprehensive Everything as a Service (XaaS) solutions. In this mini-review, we summarize the key points to consider in the setup of the analysis architectures, mostly for scientific rather than diagnostic purposes, and provide an overview of the current state of the art and challenges of the field.
format Online
Article
Text
id pubmed-5683667
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Research Network of Computational and Structural Biotechnology
record_format MEDLINE/PubMed
spelling pubmed-56836672017-11-20 Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows Kulkarni, Pranav Frommolt, Peter Comput Struct Biotechnol J Short Survey While Next-Generation Sequencing (NGS) can now be considered an established analysis technology for research applications across the life sciences, the analysis workflows still require substantial bioinformatics expertise. Typical challenges include the appropriate selection of analytical software tools, the speedup of the overall procedure using HPC parallelization and acceleration technology, the development of automation strategies, data storage solutions and finally the development of methods for full exploitation of the analysis results across multiple experimental conditions. Recently, NGS has begun to expand into clinical environments, where it facilitates diagnostics enabling personalized therapeutic approaches, but is also accompanied by new technological, legal and ethical challenges. There are probably as many overall concepts for the analysis of the data as there are academic research institutions. Among these concepts are, for instance, complex IT architectures developed in-house, ready-to-use technologies installed on-site as well as comprehensive Everything as a Service (XaaS) solutions. In this mini-review, we summarize the key points to consider in the setup of the analysis architectures, mostly for scientific rather than diagnostic purposes, and provide an overview of the current state of the art and challenges of the field. Research Network of Computational and Structural Biotechnology 2017-10-25 /pmc/articles/PMC5683667/ /pubmed/29158876 http://dx.doi.org/10.1016/j.csbj.2017.10.001 Text en © 2017 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Short Survey
Kulkarni, Pranav
Frommolt, Peter
Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows
title Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows
title_full Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows
title_fullStr Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows
title_full_unstemmed Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows
title_short Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows
title_sort challenges in the setup of large-scale next-generation sequencing analysis workflows
topic Short Survey
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683667/
https://www.ncbi.nlm.nih.gov/pubmed/29158876
http://dx.doi.org/10.1016/j.csbj.2017.10.001
work_keys_str_mv AT kulkarnipranav challengesinthesetupoflargescalenextgenerationsequencinganalysisworkflows
AT frommoltpeter challengesinthesetupoflargescalenextgenerationsequencinganalysisworkflows