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Patients are individuals

Services | Bioinformatics

Epidauros offers highly qualified services of bioinformatic analysis for different  pharmacogenetic-related purposes, namely:

Genotype/Phenotype correlation

SNPsuite® assembles alleles and predicts phenotypes by extracting raw data, listing genotypes per assay, genotypes per gene and assigning alleles to genotypes and phenotypes to allele combinations (if available from literature).

 

Results will be reported in comprehensive data formats.

Sequence Analysis

Customer provided sample sequences will be compared with a reference sequence i.e. PDRS-Sequence of our Epidauros Reference System after sequence quality inspection.

 

Based on this sequence alignment screening with SNPsuite® - Software for detection and extraction of SNPs (or variants) will be performed.

 

Reporting will strictly follow the customer’s guidelines.

Data Mining

  • The Customer provides data such as: gene list, drug-name, target, expression analysis data, information about adverse events, drug response, mechanism of action
  • Epidauros then performs:
    - Semi-automated identification of relevant publications
    - Extraction of genetic information into database
    - Annotation of genes and SNPs (frequency/functional relevance)
    - Optional: Extraction of information from public databases
  • Epidauros also reports: Annotated SNP / Gene data in a customised format.

SNPsuite®-Software

Epidauros’ SNPsuite® software compiles raw data from different sources and databases and transform these into meaningful data in a highly automated, batch-wise analysis of complex genotypes including several consistency and quality checks. All data is based on Epidauros´own reference system.

 

SNPsuite® not only allows analysis of SNPs, as the name suggests. The software is also used at Epidauros even for very complex genotype analysis questions based on sophisticated definitions of various types of variants, e.g. deletions, insertions, gene dose variations and genotypes of differential spliced exons etc. Based on its flexible data structure, the output from SNPsuite® can be easily customized to any specific data format.