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

"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."

HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway

Events

31.05.2014

ESHG 2014

Italy

26.03.2014

2014 ACMG

USA