Documents NGS Course Prague 2015

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Day 1 – April 20
Macek – Introduction
den Dunnen – NGS terminology, types of variants
Scheffer – The sequencing methods
Gut – Making the DNA sequence-ready; wet lab procedures
Hodanova – Exome sequencing; targets, hybridisation capture

Day 2 – April 21
Tichy – Targeting gene panels
Wolf -De novo genome assembly versus mapping to a reference genome
Mattocks – Thresholds for calling variants
den Dunnen – Calling variants; from simple (SNVs) to complex (SVs)
Bakker – The critical steps in the process; guidelines for diagnostics NGS

Day 3 – April 22
Makrythanasis – Annotation and prioritization of variants; incl. prediction software
Laros – The data and how they flow; formats, pipelines, storage and maintenance
Bakker – Functional validation of variants; RNA, protein, expression, functional assays
Maver – Share your findings; DNA diagnostics = share variants & phenotype, using human phenotype ontology
Janssen – Getting ISO accreditation for NGS-based diagnostics

Day 4 – April 23
Santen – Next generation diagnostics: gene panel, exome or whole genome?
Leonard – ELSI aspects; ethical, legal and social issues
den Dunnen (1) den Dunnen (2) – Future developments

Evaluationform

Presentations Symposium
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