PeSV-Fisher specifications


Unique identifier OMICS_19731
Name PeSV-Fisher
Software type Application/Script
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Perl, Python
License GNU General Public License version 3.0
Computer skills Advanced
Version 0.93
Stability No
Maintained No


No version available


This tool is not available anymore.

Publication for PeSV-Fisher

PeSV-Fisher citation


Targeted next generation sequencing in steroid resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Eur J Hum Genet
PMCID: 4538209
PMID: 25407002
DOI: 10.1038/ejhg.2014.252

[…], and an in-house exome variant database to filter out both common benign variants and recurrent artifact variant calls. To identify large structural variants, we used Pindel, Conifer, and PeSV-Fisher ( […]

PeSV-Fisher institution(s)
Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; Centro de Investigacion Biomedica en Red en Epidemiologia y Salud Publica (CIBERESP), Barcelona, Spain; Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain; Galician Foundation of Genomic Medicine-SERGAS, Complexo Hospitalitario Universitario de Santiago (CHUS), Santiago de Compostela, Spain; Institut de Biotecnologia i de Biomedicina, Universitat Autonoma de Barcelona, Bellaterra, Spain; Institucio Catalana de Recerca i Estudis Avanc¸ats (ICREA), Barcelona, Spain; National Center of Genomic Analysis (CNAG-CRG), Barcelona, Spain; Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Spain
PeSV-Fisher funding source(s)
Supported by AGAUR (Generalitat de Catalunya, 2009 SGR 1502); CIBERESP (Instituto de Salud Carlos III); ESGI (European Commission, 262055_ESGI), ENGAGE (European Commission, ENGAGE_201413), TECHGENE (European Commission, TECHGENE_223143), and GEUVADIS (European Commission, 261123_GEUVADIS); NOVADIS (Ministerio de Ciencia y Technologia, SAF2008-00357); Galicia Government Xunta de Galicia (Spain) through the project number 10PXIB918057; MAEC-AEC1 Predoctoral Fellowship (Ministerio de Asuntos Exteriores y Cooperacion, Spain) and Ramon y Cajal position and grant BFU2007-60930 (Ministerio de Educacion y Ciencia).

PeSV-Fisher reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review PeSV-Fisher