QueryOR specifications

Information


Unique identifier OMICS_18269
Name QueryOR
Interface Web user interface
Restrictions to use None
Programming languages Perl
Computer skills Basic
Stability Stable
Maintained Yes

Documentation


Maintainer


  • person_outline Giorgio Valle

Publication for QueryOR

QueryOR citations

 (2)
library_books

Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools

2017
PMCID: 5915807
PMID: 29707261
DOI: 10.1017/cts.2017.311

[…] ric Genomics [], the Ingenuity Variant Analysis Tool [], the Alamut software suite [], WuXi NextCode’s clinical analysis software suite [], Congenica’s Sapienta platform []) and in the public domain (QueryOR [], PhenIX [], MedSavant []). Our iobio tools offer unique analysis capabilities not available from these tools. For example, iobio is the only variant prioritization tool that integrates acce […]

call_split

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

2017
PLoS One
PMCID: 5657976
PMID: 29073160
DOI: 10.1371/journal.pone.0186642
call_split See protocol

[…] 02, with a percent base reads on target of 94.8%, 95.01% and 94.82%, respectively. By default, the Variant calling was performed using the “Germ Line-High Stringency” algorithm. Data were analyzed by QueryOR web platform [] and genetic variants were filtered for a global minor allele frequency ≤0.001, shared by the affected individuals but not present in the asymptomatic member nor in normal contr […]

QueryOR institution(s)
CRIBI Biotechnology Centre, University of Padua, Padua, Italy; Department of Biology, University of Padua, Padua, Italy; Department of Medicine, University of Padua, Padua, Italy; Department of Women’s and Children’s Health, University of Padua, Padua, Italy; Department of Biotechnology, University of Verona, Verona, Italy
QueryOR funding source(s)
Supported by the University of Padua, Strategic Project BIOINFOGEN, the Italian Ministry of University, Project PRIN 20108XYHJS “Integrated computational and experimental approaches for the study of human diseases”, and by CNR, project Elixir-Ita.

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