Targeted NGS in patients with cancer, mendelian or complex diseases

The cost of sequencing large genomes is still significant. Besides the cost, whole genome sequencing or whole exome sequencing generates a large amount of data that can complicate interpretation of the results. Depending on the goal of study, targeted NGS may be more cost effective and time efficient. Several clinical studies are focused only on a limited number of genes, for example in cancer research, oriented towards driver mutations across cancer-associated genes. To access the genomic region of interest, companies have developed methods which rely on various ways of capturing selected sequences. The main idea of the course is to show different ways of doing targeted NGS experiments.

The EMBO Practical Course, which will be held at the Center for Medical Genomics – OMICRON, Jagiellonian University Medical College from 19 to 23 September 2016, will consist of lectures and a hands-on part. Lectures will be given by invited speakers who are experts in the discussed topics. OMICRON staff will lead the practical part. This one week course will introduce young scientists to next generation sequencing methodology, mainly to targeted DNA analysis. Students will have an opportunity to learn how different library preparation methods – eg. PCR amplicon, capture enrichment – work. During the course we will perform several experiments based on predesigned or custom panels of different sizes in the area of cancer, mendelian and complex diseases. We will show how to analyse and interpret the data from all above mentioned panels. Sequencing experiments will be complemented by small set of qPCR experiments to demonstrate how to validate the obtained results.

After completion of this course, students should easily recognize the method of library preparation and point out its advantages and disadvantages. They should also be able to choose both the appropriate wet lab method and bioinformatics analysis pipeline for their requested study design.

All details – available here.


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