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.

Capture-Alamut-Focus

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.

Ask for your free 30-day trial

Discover our brochure



What they say
about Alamut Visual

"We are very grateful for the work you do with Alamut and continuing to improve it. We use it on daily basis to help us interpret variants for clinical tests including our technicians, analysts, genetic counselors and lab directors. Alamut has the comprehensive information available for interpreting variants and great documentation. I’ve recommended Alamut to many customers who ask me about the tools that I use. Many thanks to you for making this possible."

AMMAR HUSAMI
Cincinnati Children's Hospital Medical Center

Events

27.05.2017

ESHG 2017

Denmark

22.03.2017

ACMG 2017

USA