Slides

Slides will be available on this site until 31st July.

Plenary Sessions

Day 1

Variants in the Genome

Gene Variant Databases

Potential Consequences on RNA Level

NGS What Method to Apply?

Variant Classification

Day 3

NGS in Practice

Functional Analysis

NGS where things go wrong

Future Directions

Workshops

What to do with Novel Findings in NGS

LOVD3 Submit Data

ACMG Variant Interpretation

HGVS Nomenclature