Tiled Amplicons Panels in NGS-Based Genetic Testing

Datum: 05.12.2022, 17:30 Uhr - 18:30 Uhr 
Ort: N2045, Universitätsstraße 1, 86159 Augsburg
Veranstalter: Lehrstuhl für Biomedizinische Informatik, Data Mining und Data Analytics
Themenbereiche: Informatik, Gesundheit und Medizin
Veranstaltungsreihe: Medical Information Sciences
Veranstaltungsart: Vortrag
Vortragende: Dr. David Langenbrunner

Im Wintersemester findet jeweils montags um 17:30h in Hörsaal N2045 die Vortragsreihe Medical Information Sciences statt. Renommierte Wissenschaftlerinnen und Wissenschaftler unterschiedlicher Fachdisziplinen und Forschungsstandorte geben Einblicke in aktuelle Fragestellungen, Forschungsbereiche und Anwendungsgebiete dieses zunehmend bedeutsamen Forschungsfeldes.

Next-generation sequencing increasingly replaces traditional Sanger sequencing for routine genetic testing applications. The higher throughput allows higher sensitivities for detecting low-frequency DNA mutations. However, more sequence reads do not automatically lead to a higher sensitivity and accuracy. Technical limits grounded in NGS technology and the library preparation, such as PCR duplicates, low complexity and false positives, need to be addressed. This leads to an increase in the diversity and complexity of available commercial NGS sample preparation kits.

Recent kits targeting low-frequency variant detection (for oncology) combine approaches such a unique molecular identifiers, single primer extension and tiled amplicon designs to address these issues. We show how these approaches work, and what are the practical consequences of these approaches on the observed sequence reads and on the downstream bioinformatics analysis.

Dr. David Langenberger studied bioinformatics in Munich, New York City and Palo Alto. He received his doctorate in Bioinformatics from the University of Leipzig in 2013. His research focuses on analyzing next-generation sequencing data and designing software tools to simplify these analyzing processes. He contributed to over 20 research papers that were published in journals like Nature Genetics, PNAS and Nucleic Acid Research. In 2012 he co-founded the company ecSeq Bioinformatics.

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