Alamut Visual

Features of Alamut® Visual

Alamut® Visual, the reference software for human variation interpretation

MAIN FEATURES

Alamut Visual is a gene browser supporting human genes (protein coding, non-protein coding and pseudogenes).
It offers a single user interface with relevant annotations gathered from public databases such as NCBI, EBI, UCSC and is compliant with HGVS nomenclature. It allows Mutation reporting with pathogenicity clues and Calculates 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, KD4v)

Alamut Visual contains an advanced BAM NGS alignments viewer with VCF support.

OTHER FEATURES

  • Alamut Visual automatically connects to the well-curated Alamut software suite database
  • It manages and visualizes lab’s variants
  • It automatically fills in web-based missense prediction tools forms, eliminating human error risks
  • It contains a mutation-focused search engine over PubMed abstracts
  • Alamut Visual manages and visualizes sequence-based private annotations (e.g. primers, probes)
  • It uses standard bioinformatics file formats (e.g., VCF, BAM, BED, GFF)

AVAILABLE ANNOTATIONS

  • Nucleotide conservation (phastCons and phyloP scores)
  • Reference transcripts
  • dbSNP, gnomAD, ESP/EVS variants
  • Genome of the Netherlands (GoNL), Japan Human Genetic Variation Database (HGVD)
  • ClinVar, SwissProt pathogenic variants
  • COSMIC variants (available at no extra cost to both academic and commercial users — users who wish to download the COSMIC database, manipulate or mine it directly would need to obtain it from the Sanger Institute)
  • Integrates HGMD® Professional (requires a separate subscription from QIAGEN)
  • Access to the CentoMD® Variant Database (a separate subscription from Centogene is required)
  • Functional protein domains
  • Orthologues alignments
  • Links to external locus-specific databases

 

Alamut Visual complies with the ACMG/AMP Variant Interpretation Standards and Guidelines. Click here for details.

Alamut Visual screenshot



What they say
about Alamut Visual

"I recommend Alamut to all of my colleagues and friends in genomics!"

EDGARDO R. PARRILLA, MD
Duke University, Durham, USA

Events

24.01.2018

Assises de Génétique 2018

France

17.10.2017

ASHG 2017

USA