Imagine technology that can “read” a person's entire genetic code with incredible accuracy and speed. That's exactly what NGS (Next-Generation Sequencing) does.
Participants learned how to process data, assess the quality of sequencing and work in IGV - a powerful tool for genome visualization. Dmitry Korostin, Acting Head of the Genomics Laboratory, explained how to choose between WES, WGS, gene panels and RNA-seq, where NGS works wonders and where pitfalls still remain.
The key highlight of the day was the analysis of real clinical cases. Doctors and geneticists worked together to analyze data, learn how to interpret information and make decisions. No abstractions - only concrete skills that can be implemented in their work tomorrow.