From DNA to patient care MIK seminars 2013 Antoine van Kampen Bioinformatics Laboratory Academic Medical Center Amsterdam www. bioinformaticslaboratory.nl

Outline of the seminars Aims Next Generation Sequencing (NGS) allows the determination of DNA sequences from healthy individuals and patients Whole-genome sequencing is almost done routinely. Opens the possibility to identify mutations that cause disorders, which may lead to a further understanding of the disease, guidance of treatment selection, improved diagnostics and eventually the development of drugs. This seminars series brief introduction to DNA sequencing and how this is applied in practice. analyse sequence data obtained from Nicolaides Baraitser patients to identify the mutation that causes this disease. Finally, due to the very large amounts of sequence data that is being produced by NGS technologies there is an increasing need for state-of-the-art e- infrastructures that provide access to the necessary compute power. In these seminars you will get acquainted with these e-infrastructures and will learn how to get access and use them.

Outline of the seminars Relevance This topic is highly relevant for medical informatics. For example, the recently established Dutch Center for Genome Diagnostics is an initiative in which all UMCs participate and which aims to make mutation detection in DNA sequence part of patient care, e.g., diagnostics. This implies an increasing need to integrate results from sequence analysis and the interpretation thereof in clinical information systems to allow medical doctors and/or clinical geneticist to use such information in daily practice. Therefore, it is of importance that medical informatics professionals are aware of such developments and become actively engaged in this field.

Outline of the seminars

Voorwaarden Actieve participatie Deelname aan colleges and computerpractica is verplicht Beoordeling Uitwerkingen van alle computeropdrachten – stuur antwoorden per aan de betreffende docent Actieve participatie Indien beoordeling niet voldoende is, zal een extra opdracht worden gegeven (literatuurstudie + verslag)

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