Presentation Slides

Presentation slides will be made available for a limited time until 8 December 2017.

DAY 1

Variants in the Genome

Calling DNA variants

Human Phenotype Ontology

Gene Variant dbs & Sharing Info.

HGVS recs to describe Seq. Variants

Variant Classification - ACMG recs

DAY 2

Variant Annotation: VEP

Potential Consequences on RNA Level

Potential Consequences on Protein Level

CNV detection...

DAY 3

Variants Prioritization: annotation & filtration steps

Complex Penetrance CFTR

Functional Testing

NGS in Diagnostics

Future Developments

Workshops

ACMG Interpretation Cases

ACMG Interpretation Concordance

HGVS, HPO & Submitting Data

VarAFT & UMD Predictor

MutationTaster & RegulationSpotter

VARVIS - Limbus

SOPHiA GENETICS