Wednesday, March 12th, 2025 at 5:00PM-6:00PM (CET)
Genetic disorders arise from various types of mutations, many of which can now be identified using standard techniques such as (MS)-MLPA, microarrays, exome sequencing, and short-read genome sequencing. However, in some cases, multiple methods may be required to accurately detect different mutation types. These approaches also have limitations, particularly in the precise detection of repeat expansions (RE), complex structural variants (SV), or paralogous genes. Long-read sequencing technologies now offer a solution to these challenges, enabling the identification of all known mutation types with high sensitivity and precision. Due to advancements in throughput, cost-effectiveness, and simplified library preparation, long-read sequencing can now be implemented in routine diagnostics. Hence, various examples from research and routine diagnostic cases will be presented, highlighting the potential applications, benefits, and limitations of nanopore sequencing.
Dr. Florian Kraft studied biochemistry at the Friedrich-Schiller University in Jena, Germany, and earned his PhD at the Institute of Human Genetics, University Hospital Jena. He works at the Center for Human Genetics and Genomic Medicine at the University Hospital RWTH Aachen, where his research focuses on rare diseases. He applies both short- and long-read sequencing methods to uncover the genetic causes of inherited disorders and strives to understand the mechanisms underlying these diseases using molecular biology techniques.
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