Variant detection and clinical interpretation of next generation sequencing data.
- Variant nomenclature following HGVS guidelines
- Fundamentals of variant detection and interpretation in clinical practice
- The role of ACMGG guidelines in variant classification
Hands on analysis of VCF files, interpreation of variants, drafting molecular report
Price: 1000 SR
CME: 5 hours
Speakers: Dr. Ahmed Alfares, Ms. Lamia Alsubaie, Ms. Taghreed Aloraini