Presentation Slides

Presentation slides will be made available for a limited time until 30 September 2018.

DAY 1

Variants in the Genome

Calling DNA variants

General Databases

DAY 2

Gene Variant Databases

Viewing the Data: Ensembl

DAY 3

Viewing the Data: UCSC

Variant Annotation:VEP

Potential Consequences on RNA Level

Potential Consequences on Protein Level

DAY 4

Functional Testing

UCSC Variant Annotation Integrator

NGS in Diagnostics: where things can go wrong

NGS in Malaysia

Future Developments

Workshops

HGVS Nomenclature Workshop

HPO Workshop - Johan Slides

HPO Workshop - Andreas Slides

ACMG Workshop - Classification

ACMG Workshop - Interpretation

Ensembl Workshop

UCSC Browser Workshop

Variant Annotation using VEP Workshop