Long read-sequencing: from research to clinical: Fritz Sedlazeck

My research focuses on the identification of coding and non-coding complex variations and their impact on evolution and diseases across a multitude of organisms but with a focus on human diseases. My training in genomics started in 2008, when I started my Ph.D. in computational biology where I designed algorithms to investigate genomic variability of model and non-model organisms through the alignment of short reads. During my Ph.D. and following my entire career I was always intrigued to investigate genomic variability being it in across tissues as well as within populations or across populations. This drove my training and the fascination how variable genomes are and investigating the impact of such variability. To assess these, I collaborated and initiated efforts to determine which technologies or methodologies were most appropriate to discover variations of different forms as well as the biases that they contain. This work just recently lead to novel insights in structural variations and their genotypic and phenotypic impact on cardiovascular, mendelian and neurological diseases and other organisms. My group and I are continuing to drive the understanding around SV and understanding better their impact on phenotypes in human diseases but also across other organisms.

Over my young career as a scientist, I followed a clear path to investigate genomic variability starting with SNPs and focusing over the last 5 years on structural variations. I have successfully co supervised 5 students, initiated successful international collaborations as well as lead three projects resulting in last author publications.