I am interested in evolutionary mechanisms and understanding the functional impacts of genetic variation. In particular poorly understood variations in non-coding regions in the human genome caught my interest. Not only mutations in coding genes cause an alteration in phenotypes but also changes in regulatory sequence can be harmfull to human health. I focus on understanding structural variations (SVs) in the human genome, which can affect large spans of DNA sequence. Especially the functional interpretation of deletions, insertions or inversions of non-coding DNA remains challenging. Therefore I use machine learning methods and an evolutionary motivated approach (see CADD) to obtain an unbiased training dataset of human and chimp SVs. These training datasets can be used to learn characteristics of neutral or benign SVs. I use and integrate a broad set of regulatory features to understand which SVs are pathogenic or benign.
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Signatures of long-term balancing selection in human genomes
Bárbara D Bitarello, Cesare de Filippo, João C Teixeira, Joshua M Schmidt, Philip Kleinert, Diogo Meyer, Aida M Andrés
Genome Biology and Evolution, 2018.