Modern genomics methods produce vast amounts of genetic data, but we have limited ability to interpret the effects of sequence variation on gene expression, protein function and the individual’s phenotype. This is a problem in clinical genetic testing, e.g. for diagnosis of hereditary breast cancer, where many variants are classified as ‘variant of unknown significance’ (VUS) for lack of functional information. Our aims are to understand how variants in regulatory motifs control alternative splicing and intron retention and to use this information to develop accurate methods for identification of functional variants. We are analysing alternative splicing and its association with germline variants and somatic mutations RNA and DNA sequencing data for thousands of women with sporadic or familial breast cancer.
Contact: Helena Persson, helena.persson@med.lu.se, http://research.med.lu.se/helena-persson