Marcin Imielinski, MD, PhD

Our research mission is to expand the clinical utility of whole genome sequencing in oncology, including developing software for the analysis and interpretation of whole genomes. Our laboratory is also fundamentally interested in the biology and therapeutic implications of complex, noncoding, and structural DNA variation in cancer. Here, we have developed methods for genome analysis and uncovered new classes of somatic mutational processes (Cell 2017, Genome Research 2018, Cell 2020, Nature Genetics 2023).  We have applied these methods to characterize structural genomic alterations in telomere crisis (Nature Communications 2021), homologous recombination deficiency (Nature 2023), and lung adenocarcinomas that lack known oncogenic drivers (Cell Reports 2021).   The laboratory is also interested in how cancer structural DNA variants perturb genome folding, where we have developed a long read sequencing assay (Pore-C) and algorithms (Chromunity) to study high-order 3D interactions in human cells (Nature Biotechnology 2022).