AG Regulatory Genomics

The "Regulatory Genomics" group at the Institute of Human Genetics, directed by Prof. Dr. rer. nat. Martin Kircher, is a bioinformatics research group. We study genetic variant effects throughout the genome using methods from sequence analysis, data mining, machine learning and functional genomics. The research focuses on computational approaches of identifying functionally relevant genetic changes in disease and adaptation (e.g., Combined Annotation Dependent Depletion , CADD & CADD-SV) as well as developing more sensitive methods in diagnostics (especially exome, genome and cell-free DNA sequencing). Understanding how gene regulation is encoded in our genomes across development and the diversity of cell-types is one of our fundamental research questions. We study the effects of non-coding sequence alterations (e.g., using massively parallel reporter assays, CRISPR screens and functional read outs) and develop computational pipelines to infer activity measures from experimental assays. In combination with diverse functional read outs of for example promoters and enhancer sequences (like chromatin accessibility, histone marks and RNA expression), we use those to model how regulatory function is encoded in genomic sequence.

Prof. Kircher is also a Fellow and group leader of the Berlin Institute of Health (BIH), the translational research institute of Charité - Universitätsmedizin Berlin, where part of his research group is located.

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