NCM Boston | Oxford Nanopore Technologies
NCM Boston
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Oxford Nanopore Technologies
Fritz Sedlazeck
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- Job title
- Institution
- Baylor College of Medicine, USA
- Biography
Dr. Fritz Sedlazeck is an Associate Professor at Baylor College of Medicine and an adjunct Associate Professor at Rice University. He has led a research group since 2017 at the Human Genome Sequencing Centre at Baylor College of Medicine. Fritz’s research focuses on developing computational methods to detect and analyze genomic variations with a focus on structural variations. Structural variations (SVs) are genomic events that manipulate multiple positions in a genome, which impact evolution, genomic disorders, regulation, as well as play an important role in explaining multiple phenotypes. His group focuses on the mechanisms of SV formation across multiple species and to improve our understanding how these complex alleles evolve and impact phenotypes. Over the years, Dr. Sedlazeck has led multiple efforts from large-scale short reads (e.g. Topmed, CCDG) to long reads (CARD, All of US) to study SV occurrence, impact, and mechanism of SV.
- Recent publications
Smolka, M. et al. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol (2024).
DOI: 10.1038/s41587-023-02024-yLuis, F.P. et al. The benefit of a complete reference genome for cancer structural variant analysis. medRxiv 2024.03.15.24304369 (2024).
DOI: 10.1101/2024.03.15.24304369