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Genotype-phenotype modelling

Mapping genotypic data on phenotypic descriptions of subjects is the core of genotype-phenotype modelling. This type of modelling is becoming increasingly important in biomedical research as an instrument to study susceptibility genes in complex diseases. In the pharmaceutical industry, genotype-phenotype modelling is used to identify drug targets, whereas in food research it is applied to test the efficacy of functional food ingredients.

Generally speaking, a genotype is broadly defined, consisting of sequence or copy number polymorphisms in DNA or epigenetic variation. Gene expression patterns provide a cellular phenotype, while phenotypic traits relate to the individual subject.

The genotype-phenotype modelling programme aims to design and implement bioinformatics methods that enable integration of multiple heterogeneous data sources. Such integration will provide detailed insight in genotype-phenotype relationships. The programme puts particular emphasis on: 

  • methods for identification and prioritization of candidate genes in inherited and somatically acquired human disease
  • 'genetical genomics' to combine genetics with molecular phenotypes
  • approaches that relate genome structure to phenotype.

Programme leader: Judith Boer, Leiden University Medical Centre (NL).