Alamut Visual statistics

Tool stats & trends

Looking to identify usage trends or leading experts?

Protocols

Alamut Visual specifications

Information


Unique identifier OMICS_05998
Name Alamut Visual
Alternative name Alamut Genova
Software type Toolkit/Suite
Interface Command line interface
Restrictions to use License purchase required
Operating system Unix/Linux
License Commercial
Computer skills Advanced
Stability Stable
Maintained Yes

Versioning


No version available

Alamut Visual citations

 (49)
library_books

Outlier response to anti PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

2018
Nat Commun
PMCID: 5951831
PMID: 29760383
DOI: 10.1038/s41467-018-04322-5

[…] ta downloaded through the GDC portal. Expression data of the tumors from UVM_1 and GBM_4 was explored through the cbioportal. Effect of splice mutations was predicted on the major transcript with the Alamut Visual Software (Interactive Software, Rouen, France), which contains the algorithms SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder, ESE-Finder, and RESCUE-ESE. Muta […]

call_split

Next generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

2018
BMC Med Genet
PMCID: 5948732
PMID: 29751740
DOI: 10.1186/s12881-018-0590-0
call_split See protocol

[…] To investigate the functional impact of the genomic variations found in the present study, we used the ALAMUT® VISUAL software. This software uses the following relevant prediction tools: i) Splice Site Finder-like, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder and ESE for splicing predictio […]

library_books

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

2018
Genes
PMCID: 5924558
PMID: 29673180
DOI: 10.3390/genes9040216

[…] side the canonical positions mentioned previously were studied with two different sets of prediction algorithms: SIFT, Polyphen2, MutationAssessor and REVEL were only used for missense mutations. The Alamut Visual® splicing module was used to analyse all variants predicted to alter splicing, and for missense mutations in proximity to the splicing junctions or with conflicting interpretations of th […]

library_books

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

2018
BMC Med Genomics
PMCID: 5839022
PMID: 29510755
DOI: 10.1186/s12920-018-0338-x

[…] ation_Transcript/. Predicted consequences of genetic variations were evaluated by using online bioinformatics tools such as SIFT [], PolyPhen-2 [], and EX_Skip []. The same information is compiled in ALAMUT© Visual software (from Interactive Biosoftware©) which allows us to know if the variants observed have already been described in recessive or dominant genetic diseases. A statistical analysis h […]

call_split

Novel Variants in Individuals with RYR1 Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

2018
PMCID: 5845096
PMID: 29556213
DOI: 10.3389/fneur.2018.00118
call_split See protocol

[…] art of the trial screening process. Variants causing nonsynonymous, nonsense, or splice-site substitutions and frameshift variants in the coding regions or splice signal sequences were screened using Alamut Visual software version 2.9.0 (Interactive Biosoftware, Rouen, France) by querying the nucleotide change provided by each laboratory. Alamut Visual complies with standards outlined by the Ameri […]

library_books

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

2018
PMCID: 5814433
PMID: 29479477
DOI: 10.1038/s41525-018-0046-7

[…] or Clinical Genomic Science (www.acgs.uk.com), and others. Laboratories described a mixture of different resources and databases used to help in classification including ClinVar, literature searches, Alamut Visual (www.interactive-biosoftware.com/alamut-visual), Sorting Intolerant From Tolerant (SIFT)(sift.jcvi.org), Polyphen2 (genetics.bwh.harvard.edu/pph2), dbSNP (www.ncbi.nlm.nih.gov/projects/S […]

Citations

Looking to check out a full list of citations?

Alamut Visual institution(s)
INTERACTIVE BIOSOFTWARE

Alamut Visual reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review Alamut Visual