- qPCR-based analysis of degradation of human and dog DNA
- Improved STR analysis of degraded DNA using NGS
- Application of whole genome amplification (WGA) in STR profiling of low template DNA
Human Genetics
Areas of expertise
- Human genetics and molecular diagnostics
- Analysis of exome and genome sequencing data
- Variant prioritization and classification
- Functional characterization of gene variants
- Identification of novel disease-associated genes in autoinflammatory disease and inborn errors of metabolism
- Characterization and analysis of pathomechanisms in autoinflammatory disorders and inborn errors of metabolism
Technical infrastructure
- PCR thermocycler
- QIAQuant qPCR system
- QIAcuity Digital PCR system
- Agilent Tapestation
- ABI PRISM® 310 Genetic Analyzer
- Illumina MiSeq sequencer
- Nanopore Long Read Sequencing