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

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

"Alamut Visual has dramatically improved our research capabilities and our testing workflow related to both NGS and Sanger based tests. We wouldn't want to imagine a world without it.
Alamut Batch is an intuitive, comprehensive and cost-effective solution to annotation."

ADAM COOVADIA
Johns Hopkins Medicine, All Children's Hospital

Events

16.10.2018

ASHG 2018

USA

16.06.2018

ESHG 2018

Italy