Functional genomics and discovery of the role of genes in normal physiology and pathobiology depends increasingly on our ability to relate phenotypes to genetic variation in human populations and engineered mutations in model organisms. The huge volumes of genotype and phenotype data now becoming available through high-throughput phenotyping, next generation sequencing and precision medicine mean that computational methods have to be developed to analyse them. Our major interest is the development of formal semantic approaches to describing abnormal phenotypes and computational methods to relate phenotypes between organisms as disparate as fruit flies and man.
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