Alamut - Mutation Interpretation Software

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 IBS) that is regularily 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.