Alamut Focus

MAIN FEATURES

Alamut® Focus allows the user to quickly design and apply simple to complex variant filtering strategies with an intuitive and easy-to-use graphical user interface.
It also allows to apply pre-configured inheritance-based scenarios: autosomal recessive, autosomal dominant, X-linked recessive, de novo.
It is fully compatible with ALAMUT® BATCH and  ALAMUT® VISUAL.

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AVAILABLE FILTERS

Variant location, type, frequency, genotype, coding effects, biological processes, and molecular functions

  • Gene: symbol and location within a gene
  • Variant type: substitution, deletion, insertion, duplications, delins
  • Genotype : homozygote, heterozygote and variant frequency
  • Coding effect: synonymous, missense, nonsense, in-frame, frameshift, start loss, stop loss
  • Variant location: upstream, downstream, exon, intron, 5’UTR, 3’UTR, splice site
  • Gene Ontology terms (biological process, cellular component, molecular function)
  • Allele frequency

Information and allele frequencies from variation databases

  • dbSNP, ExAC, ESP/EVS, 1000 Genomes
  • ClinVar
  • Cosmic
  • HGMD® Professional (requires separate subscriptions)

Missense annotations and predictions, splicing predictions

  • Growing list of missense prediction tools: SIFT, Align GVGD, MAPP
  • Splicing effect in variation vicinity (e.g. new splice site, activation of nearby cryptic site)

Data Quality

  • Variant calling quality: Phred quality score, filter status
  • Mapping quality
  • Depth of coverage

Inheritance pattern

  • autosomal recessive or dominant,
  • X-linked recessive,
  • de novo mutation

Starting from annotated variant collections, the software selects candidate variations based on user-defined or pre-configured criteria.

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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

27.05.2017

ESHG 2017

Denmark

22.03.2017

ACMG 2017

USA