Sedlzaeck Lab

Our research focuses on the detection and understanding of the mechanisms of origin of genomic Structural Variation (SV), to advance comparative genomics, biomedical research and ultimately, clinical care. SVs are an understudied form of genomic variation that includes deletions, duplications, insertions, inversions, and translocations. They represent an important class of variation, as in aggregate, they impact more of the human genome than does single nucleotide variation. The core strength of the Sedlazeck lab is to develop new methods and algorithms to obtain a deeper understanding of the underlying molecular biology. We are doing this with a focus on large scale genomics (hundreds of thousands of samples) and the application of novel technologies (e.g. long reads such as PacBio or Oxford Nanopore). Utilizing this we uncovered novel complexity accross human evolution, diseases (e.g. neurological, mendelian, cardiovascular), cancer (e.g. breast or viral associated), but also non-human based. The latter either to improve our understanding of human variations (e.g. rhesus macaque) or to improve certain phenotypes (e.g. tomato, yeast)

Going forward, the Sedlazeck lab utilizes novel biotechnology and develops algorithms to improve our understand of human diseases with a special focus on adult diseases. To achieve this, we have experience in phasing, methylation calling and variant calling in complex regions of the human genome. We also leverage both mapping and assembly approaches to obtain a comprehensive insight at the sample at hand. In addition to comprehensive genomics, we apply these approaches at scale to improve heritability and association of certain diseases. This is only possible with a dedication of scalable algorithms, cloud infrastructure and the application of machine learning techniques together with high filtering and quality control standards. As such our lab contributes to Topmed, CCDG, ADSP and other consortia to push innovation across genomics and genetics to address questions of evolution, diseases and development.