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Alamut Visual specifications

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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

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No version available

Alamut Visual citations

 (65)
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

[…] 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. […]

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

[…] bioinformatics tools. a detailed explanation on the background of scores for each algorithm included in the alamut splicing module can be found at http://www.interactive-biosoftware.com/doc/alamut-visual/2.6/splicing.html., the differences among age-groups and frameshifting/in-frame groups were evaluated for each parameter under study with fisher’s exact test. the chi-square trend test […]

library_books

Adult female with symptomatic AVPR2 related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

2018
PMCID: 5813712
PMID: 29472987
DOI: 10.1530/EDM-17-0139

[…] show avpr2 variants. variants with a population frequency greater than 1 in 50 were automatically deemed as insignificant., variant interpretation of the remaining variants was carried out using the alamut visual software. all variants of class 4 or above, according to the current acmg guidelines, were then confirmed by sanger sequencing (). the recurrent mutation c.409c > t, p.(arg137 cys) […]

library_books

Efficient strategy for the molecular diagnosis of intractable early onset epilepsy using targeted gene sequencing

2018
BMC Med Genomics
PMCID: 5796507
PMID: 29390993
DOI: 10.1186/s12920-018-0320-7

[…] from the general population were considered to have moderate evidence as pathogenic. second, literature and database searches for previous reports and functional studies were performed using the alamut visual 2.6 software (interactive biosoftware, france) and hgmd professional database. when all in silico analyses showed consistent predictions, the results were regarded as evidence of benign […]

library_books

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia

2018
PMCID: 5902390
PMID: 29385657
DOI: 10.1002/mgg3.365

[…] of αiib and 26 for β3. amino acid numbering for the mature protein was previously used in the crystal structure of αiibβ3 and subsequent in silico modeling (see xiao et al., ; zhu et al., ). alamut visual software version 2.9 (interactive biosoftware, rouen, france) was the primary source (1) for evaluation of nucleotide and amino acid conservation between species and within […]

library_books

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

2018
Sci Rep
PMCID: 5792649
PMID: 29386597
DOI: 10.1038/s41598-018-20281-9

[…] each new molecular event was estimated with in silico prediction of protein function tools: polyphen (genetics.bwh.harvard.edu/pph), sift (sift.jcvi.org), mutationtaster (mutationtaster.org) using alamut visual version 2.7.1., the cdnas encoding human ldlr and human pcsk9 and its mutants were cloned in pires2-egfp (clontech labs), a bicistronic plasmid allowing the independent expression […]


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