DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation.
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 technic...
| Publicado en: | BioMed Research International Vol. 2015; pp. 1 - 12 |
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| Autores principales: | , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
6/7/2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109274497&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109274497 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 6/7/2015 vid: 2015 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 109274497 109274497 109274497 10.1155/2015/403497 109274497 ppf: 1 ppct: 11 formats: fmt: @attributes: type: P tig: atl: DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. aug: au: Wolf, Beat Kuonen, Pierre Dandekar, Thomas Atlan, David affil: University of Applied Sciences and Arts of Western Switzerland, Perolles 80, 1700 Fribourg, Switzerland sug: subj: Sequence Analysis Software Utilization DNA Analysis Pathology, Molecular Systems Analysis Diffusion of Innovation Quality Control (Technology) Data Analysis Methods Software Design Algorithms ab: 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. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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