Profile

Dr. Martin Kircher works in the fields of Functional Genomics and Machine Learning. He studied Computational Molecular Biology at Saarland University in Germany (B.Sc/M.Sc.hon). During his PhD in Computer Sciences at Leipzig University and the Max Planck Institute for Evolutionary Anthropology, Department of Evolutionary Genetics (Drs. J. Kelso & S. Pääbo), Dr. Kircher worked on the Neandertal and Denisova genome projects, resulting in unique insights into human history and adaptation. Between 2012 and early 2017, he held a Senior Research Fellow position with Dr. J. Shendure in the Department of Genome Sciences at the University of Washington, Seattle, USA. From 2012 to 2015, he was also part of the University of Washington's Center for Mendelian Genomics and actively involved in several disease studies. In 2013, Dr Kircher developed (and since maintains) a framework for objectively combining diverse annotations to a single measure of variant deleteriousness, called Combined Annotation Dependent Depletion (CADD). In another line of research, he joined a team to show that an epigenetic signal of cell-type origin is captured in cell-free DNA fragments (liquid biopsies). During the time in Seattle, he also got interested in a better understanding regulatory variation and the development of Massively Parallel Reporter Assays (MPRAs). Since 2017, he continues these lines of research in his own lab in Germany. As of January 2022, he is the Professor of Regulatory Genomics at the Institute of Human Genetics of the University Medical Center Schleswig-Holstein (UKSH) on the Luebeck Campus . He is also a Fellow at the Berlin Institute of Health (BIH) at Charité, where he heads the Computational Genome Biology group. He is part of the Impact of Genomic Variation on Function (IGVF) Consortium.