Alamut® Visual is a decision-support software application that integrates genetic and genomic information from different sources into one consistent and convenient environment to help interpret their pathogenic status.
It gathers in one place a wide set of data and algorithms of recognized quality that are essential for the clinical interpretation of genomic variants.
Alamut® Visual has been developed to help scientists and physicians in their daily research and diagnostic activities. The Alamut® database contains more than 28000 coding genes, non-protein coding genes and pseudogenes. This database (shared with the high throughput annotation engine for NGS data, Alamut Batch) is frequently updated.
Information comes from different public databases such as NCBI, EBI, and UCSC, as well as other sources including ExAC, ESP, Cosmic, ClinVar, or HGMD and CentoMD (for those a separate subscription from Qiagen/Biobase and Centogene respectively is required).
Users will also find in Alamut® Visual nucleotide conservation data through many vertebrates’ species, with the phastCons and phyloP scores, amino acid conservation data through orthologue alignments and information on protein domains.
Moreover, Alamut® Visual integrates several missense variant pathogenicity prediction tools and algorithms such as SIFT, PolyPhen, AlignGVGD or MutationTaster. It also offers a window dedicated to the in silico study of variants’ effect on RNA splicing, allowing the assessment of their potential impact on splice junctions and visualization of cryptic or de novo splice sites. Impact on splicing regulation can also be assessed there.
Furthermore, users will be able to visualize BAM alignments as well as associated VCF files in order to easily study variants detected by NGS analyses. Several BAM files can be loaded simultaneously for multi-sample studies such as trios.
Alamut® Visual is used in cutting-edge university medical centers, hospitals and private genetic analysis laboratories worldwide. It is much appreciated by its users (see Testimonials) for the following reasons:
It allows them to save a significant amount of time by using this all-in-one application adapted to genetic diagnostics with a user-friendly and easy-to-use graphical interface. Consequently, the laboratory increases its productivity.
It strengthens the quality of analysis and interpretation work relying on updated databases, applying HGVS nomenclature, and supporting good practices and recommendations of the genetic diagnostics community.
Alamut® Visual complies with the ACMG/AMP Variant Interpretation Standards and Guidelines. Click here for details.