Services for research and commissioned studies

  • Extraction of nucleic acid

High quality DNA is essential for successful genotyping with highly sensitive methods.

bio.logis Center for Human Genetics (CfH) offers extraction of DNA of high quality from human and animal tissue samples.

  • Genotyping: SNP and mutation analyses

Single nucleotide polymorphisms (SNPs) are among the most common genetic variants. SNPs are useful markers for mapping genes that are involved in disease. Such studies are called “association studies”.

The bio.logis CfH research service offers analyses of a few up to several million SNPs using various SNP genotyping procedures. In addition, mutation analyses are offered for any target as part of commissioned studies.

  • DNA sequencing: Sanger and Next-Generation Sequencing (NGS)

Sequencing according to Sanger is considered a “gold-standard” for diagnostic analysis of genetic variants.

bio.logis CfH is an established provider of DNA sequencing according to Sanger for mutation detection. Several sequencing platforms are used.

In addition bio.logis CfH offers a service for Next Generation Sequencing (NGS) projects based on long read NGS platforms using titanium chemistry. NGS methods simultaneously generate millions of “sequence reads”. Bases of the DNA-stretch under investigation are sequenced multifold (20 – 100 fold). This facilitates valid “calling” and interpretation of SNPs, mutations, and structural variants.

 

 

NGS projects include single reads and sequence analyses of complex panels. The NGS service currently includes:

  • Targeted re-sequencing including assay design, validation, and target enrichment
  • Whole exome sequencing
  • De novo sequencing
  • Whole transcriptome analysis

These services include data analysis and comprehensive reports.

 

 

  • Molecular karyotyping (array CGH)

Developments of the last years have revolutionized conventional karyotyping. While conventional methods detect structural chromosomal aberrations larger than 5 Mb only, modern, array-based techniques facilitate detection of aberrations as small as a few kilobases.

bio.logis Center for Human Genetics (CfH) offers comparative genomic hybridization for highly sensitive detection of small chromosomal aberrations (including deletions, unbalanced translocations, insertions, and duplications). Furthermore bio.logis CfH offers array-based expression analyses.

  • Pharmacogenetic

Pharmacogenetics describes the inter-individual variation of drug-response based on genetic variants. Variants of several genes are known that influence efficacy and tolerance of specific drugs. Analysis of such variants facilitates individual dosage and selection of drugs.

 

 

bio.logis Center for Human Genetics offers analysis of many pharmacogenetic markers. The pharmacogenetic markers analyzed include genes coding for currently known metabolizing enzymes, transporters, and receptors that affect responsiveness to drugs.

 

 

  • Bioinformatic

NGS and array analyses generate large amounts of complex data. Their analysis and management requires extensive competence in bioinformatics, information technology, and genetic statistics.

 

 

bio.logis Center for Human Genetics (CfH) offers a broad spectrum of IT methods for analysis of complex datasets. This applies to IT solutions for data generated at bio.logis CfH as well as for data generated outside (stand-alone service).

 

 

  • Project consultation and management

Project consultation and management by bio.logis CfH is based on the long-term expertise of its employees in molecular genetics and human genetic diagnosis. bio.logis CfH answers questions related to genetics that are addressed by academic and industrial partners involved in diagnostics, pharmaceutics, and biotechnology.