EJP RD Variant Prioritization and Enrichment for Rare Diseases Workshop

  • 20 September 2023 - 09:00
  • Istanbul, Turkey

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.

Organizer:
Prof. Osman Uğur Sezerman
EJP RD and ACURARE member

ERNs, EJP RD

Registration is open here until September 9th, 2023.

Acibadem University 
Adress: Kayışdağı Caddesi Acıbadem Üniversitesi Kerem Aydınlar Kampüsü, No : 32, 34752 Ataşehir/İstanbul

See the programme here.

EVENT INFO :

  • Start Date:20 September 2023
  • Start Time:09:00
  • End Date:22 September 2023
  • End Time:17:30
  • Location:Istanbul, Turkey