EJP RD Variant Prioritization and Enrichment for Rare Diseases Workshop

Participants will learn the fundamentals of Whole Exome Sequencing (WES) including terminology, pre and post-alignment processing, variant calling using Genome Analysis Toolkit (GATK) pipeline and annotation/filtration/interpretation of the variants. Moreover, Polygenic Risk Score (PRS) Analysis, predatoR: Pathogenicity Prediction tool, Wikipathways, Multi-omic Data Analysis and Pathway Enrichment Methods will be covered.

ERNs, EJP RD

Registration is open here until September 9th, 2023.

English.

See the programme here.