Rare Disease Discovery Suite

The suite aids research focusing on a certain inherited or acquired rare disease. It allows the researcher to discover more about the genetic background of the disease and its possible consequences. The suite is based on modules – created to answer specific questions. The modules can be customized according to the individual characteristics of the project.

De-Novo Mutation Discovery Module

De novo mutations usually play a huge role in the pathomechanism of rare diseases. The discovery of such mutations require a unique expertise. Module components:

  • Variant Calling and Filtering
  • Annotation
  • Comparison to public SNP, mutation databases and HapMap
  • Linkage Disequilibrium and Haplotype Analysis
  • Singleton and family-based analysis
  • Pathway analysis
  • Function prediction

Small n Sample Size Association Analysis Module

Small sample sizes require the application of specific statistical tests to discover relevant phenotype-variant associations during genetic characterization. Module components:

  • Phenotype clustering (automated, symptom based)
  • Multiple sequence alignment
  • Genotype-phenotype correlation analysis
  • Association testing