Features of Alamut Visual

Alamut Visual, the reference software in human variation interpretation

MAIN FEATURES

  • Gene browser supporting human genes (protein coding, non-protein coding and pseudogenes)
  • A single-user interface with relevant annotations gathered from public databases (like NCBI, UCSC, EBI)
  • HGVS nomenclature compliant software
  • Mutation reporting with pathogenicity clues
  • Calculate functional impact of variants with relevant prediction tools:
    • Splicing prediction tools (SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder)
    • ESE tools
    • Missense prediction tools (Align GVGD, SIFT, MutationTaster, PolyPhen-2)
  • Advanced BAM NGS alignments viewer with VCF support

OTHER FEATURES

AVAILABLE ANNOTATIONS :

  • Automatically connects to the well-curated Alamut software suite database
  • Manages and visualizes lab’s variants
  • Automatic form filling of web-based missense prediction tools
  • Mutation-focused search engine over PubMed abstracts (Talamut)
  • Manages and visualizes sequence based private annotations (e.g. primers, probes)
  • Uses standard bioinformatics file formats (e.g., BAM, BED, GFF…)

External annotations link like LSDBs, LOVD

  • Integration annotations from HGMD® Professional*, Genome Trax ™* (BIOBASE)

*professional license must be purchased from BIOBASE by customers

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What they say
about Alamut Visual

"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."

PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague

Events

19.11.2014

JSHG 2014

Japan

19.10.2014

ASHG 2014

USA