DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation
Joint Authors
Dandekar, Thomas
Wolf, Beat
Kuonen, Pierre
Atlan, David
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-07
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Over recent years next generation sequencing (NGS) technologies evolved from costly tools used by very few, to a much more accessible and economically viable technology.
Through this recently gained popularity, its use-cases expanded from research environments into clinical settings.
But the technical know-how and infrastructure required to analyze the data remain an obstacle for a wider adoption of this technology, especially in smaller laboratories.
We present GensearchNGS, a commercial DNAseq software suite distributed by Phenosystems SA.
The focus of GensearchNGS is the optimal usage of already existing infrastructure, while keeping its use simple.
This is achieved through the integration of existing tools in a comprehensive software environment, as well as custom algorithms developed with the restrictions of limited infrastructures in mind.
This includes the possibility to connect multiple computers to speed up computing intensive parts of the analysis such as sequence alignments.
We present a typical DNAseq workflow for NGS data analysis and the approach GensearchNGS takes to implement it.
The presented workflow goes from raw data quality control to the final variant report.
This includes features such as gene panels and the integration of online databases, like Ensembl for annotations or Cafe Variome for variant sharing.
American Psychological Association (APA)
Wolf, Beat& Kuonen, Pierre& Dandekar, Thomas& Atlan, David. 2015. DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. BioMed Research International،Vol. 2015, no. 2015, pp.1-11.
https://search.emarefa.net/detail/BIM-1055349
Modern Language Association (MLA)
Wolf, Beat…[et al.]. DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. BioMed Research International No. 2015 (2015), pp.1-11.
https://search.emarefa.net/detail/BIM-1055349
American Medical Association (AMA)
Wolf, Beat& Kuonen, Pierre& Dandekar, Thomas& Atlan, David. DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-11.
https://search.emarefa.net/detail/BIM-1055349
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055349