Interactive Biosoftware

Alamut - Mutation Interpretation Software

Snapshot Alamut is a decision-support software application for medical molecular genetics, dedicated to mutation diagnostics. It is designed so as to help interpret mutations quickly and reliably, by bringing together relevant molecular data and prediction methods inside a consistent and convenient environment.

Integration of multiple data sources

Alamut displays gene annotations gathered from multiple reliable data sources. This integration relieves the user from the need to manually collect information from various places. Alamut is based on first-class molecular biology databases such as RefSeq, dbSNP, Uniprot, InterPro, the UCSC Genome Browser Database, and PubMed. It also relies on Ensembl, one of the top genome annotation systems currently available.

Readiness and ease of use

The software relies on a data server (hosted by Interactive Biosoftware) that is regularly updated. So there are no tedious setup and maintenance steps on the user side. Once installed on your computer, Alamut offers a ready-to-use simple and rich graphical environment for your mutation analysis needs.

HGVS nomenclature compliancy

Alamut has a detailed knowledge of the HGVS Mutation Nomenclature Recommendations. In the software, variations are systematically labeled along the Recommendations, and corrected if needed.

Prediction methods a click away

Repeatedly invoking molecular biology prediction algorithms over the Web can be a hassle. Alamut either fully integrates prediction methods (e.g. splice site prediction algorithms) or automatically fills Web forms for you (e.g. PolyPhen), so as to relieve the user from the technical intricacies of these tools.

Download the Alamut brochure here.

EuroGentest Evaluation Report Available

The final report of the Alamut evaluation performed by EuroGentest and NGRL Manchester is now available.

Video Tutorials

These video tutorials will help you get started with Alamut.

Free Evaluation

If you wish to evaluate Alamut in your lab, please request a trial copy.

References

Alamut is used world-wide. See the list of our customers.

Talamut

Alamut uses Talamut, a search engine dedicated to genetic mutations cited in PubMed.

You can try it here.

Alamut User Interface Overview

Snapshot

Features

Gene browser over 16,000+ human protein-coding nuclear and mitochondrial genes
Easy and intuitive navigation within a rich graphical environment
Available annotations: nucleotide conservation, reference transcripts, SNPs with allele frequencies, SwissProt pathogenic variants, functional domains, orthologues
Calculates theoretical consequences of substitutions, insertions and deletions (effects on protein sequence, frameshifts, splicing effects, nonsense-mediated mRNA decay)
Generates mutation reports with full HGVS nomenclature, and pathogenicity clues
Splicing predictions based on 4 different algorithms (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer)
Automated access to web-based variant scoring methods (PolyPhen, SIFT, Align GVGD)
Manages and visualizes user's own mutation set
Import variant annotations from external sources
Mutation-focused search engine over PubMed abstracts
Automatically connects to Interactive Biosoftware's regularly updated data servers

Evaluation