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BioXRT specifications

Information


Unique identifier OMICS_03845
Name BioXRT
Software type Package/Module
Interface Graphical user interface
Restrictions to use None
Operating system Unix/Linux, Mac OS
Programming languages Perl
Computer skills Medium
Stability Stable
Maintained Yes

Versioning


No version available

BioXRT citations

 (7)
library_books

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

2015
BMC Med Genet
PMCID: 4559162
PMID: 26334530
DOI: 10.1186/s12881-015-0225-7

[…] through the Agilent Scanner and the Feature Extraction software (v10.7.3.1) and Agilent Genomic Workbench 7.0.4. Bioinformatic analysis was carried out by consulting the Database of Genomic Variants BioXRT [http://projects.tcag.ca/variation/]. Gene content analysis in the deleted segment was carried out by using UCSC database NCBI37/hg19 (http://www.genome.ucsc.edu).Next Generation Sequencing ana […]

library_books

Telomere shortening and telomere position effect in mild ring 17 syndrome

2014
PMCID: 3892072
PMID: 24393457
DOI: 10.1186/1756-8935-7-1

[…] y number variations, detected by array-CGH, were potentially correlated with the clinical phenotype of our patient, bioinformatic analysis was carried out, consulting the Database of Genomic Variants BioXRT (http://projects.tcag.ca/variation/). […]

library_books

INDIGO – INtegrated Data Warehouse of MIcrobial GenOmes with Examples from the Red Sea Extremophiles

2013
PLoS One
PMCID: 3855842
PMID: 24324765
DOI: 10.1371/journal.pone.0082210

[…] Recently, Triplet et al. [] thoroughly compared and benchmarked four data warehousing systems namely BioMart [], BioXRT (mentioned in []), InterMine [] and Pathway Tools [] in a number of aspects covering accuracy, their computational requirements and development efforts. In that study, InterMine and Pathway Too […]

library_books

High Resolution Array CGH Profiling Identifies Na/K Transporting ATPase Interacting 2 (NKAIN2) as a Predisposing Candidate Gene in Neuroblastoma

2013
PLoS One
PMCID: 3808344
PMID: 24205241
DOI: 10.1371/journal.pone.0078481

[…] (CNVs) detected by array-CGH were polymorphic or potentially correlated with the clinical phenotype of the patients, bioinformatic analysis was carried out consulting the Database of Genomic Variants BioXRT [http://projects.tcag.ca/variation/]. Investigation of gene contents in the deleted segment was carried out by using UCSC database NCBI36/hg18 (http://www.genome.ucsc.edu). […]

library_books

Array CGH characterization and genotype phenotype analysis in a patient with a ring chromosome 6

2013
BMC Med Genomics
PMCID: 3599180
PMID: 23398904
DOI: 10.1186/1755-8794-6-3

[…] evaluate if the Copy Number Variations (CNVs) detected were polymorphic or potentially correlated with the disease, bioinformatics analysis was carried out consulting the Database of Genomic Variants BioXRT []. […]

library_books

Deletion of a single copy DAAM1 gene in congenital heart defect: a case report

2012
BMC Med Genet
PMCID: 3482563
PMID: 22857009
DOI: 10.1186/1471-2350-13-63

[…] exiocardia and complete endocardial cushion defect. The physical position of this deletion spanned from 58678231 to 58964009 in the reference sequence, without overlapping any genomic variants on the BioXRT platform (version 1.03). The full lengths of the DAAM1 (LOC 58725152–58906224) and KIAA0666 (LOC 58891636–58906224) genes were mapped to the position of this CNV (Figure  ). No significant DNA […]

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