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

"I tried different software applications that are available in the market before I made my final decision. I must say alamut visual is the best in many ways, and sometimes you feel like you enjoy to surf in software and  it makes you feel more and more curious with your findings in the data you work with. Thank you!"

NAGIHAN AKBULUT

ATCLearn, Salmiya, Kuwait

Events

16.06.2018

ESHG 2018

Italy

11.04.2018

ACMG 2018

USA