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 were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."

PASCALE RICHARD M.D. Ph.D.
Paris, France

Events

19.11.2014

JSHG 2014

Japan

19.10.2014

ASHG 2014

USA