Genomics Course
This course offers a comprehensive, hands-on introduction to whole-exome sequencing (WES) analysis for identifying genetic variants in rare inherited disorders, with a focus on practical workflows and clinical applications.

from 4 to 360h flexible workload
certificate valid in your country
What will I learn?
This Genomics Course provides a practical, complete workflow for whole-exome sequencing in rare family disorders. Learn study design, raw data quality checks, alignment, variant calling, and joint genotyping using current best practices. Gain hands-on skills in annotation, population frequency filtering, variant prioritisation, validation, and clinical reporting, with clear examples focused on inherited cancer risks.
Elevify advantages
Develop skills
- WES study design: plan small family exome projects for rare inherited diseases.
- Read alignment & QC: align WES reads, check quality, and fix common issues.
- Variant calling & filtering: run germline callers and adjust cutoffs for clean VCF files.
- Annotation & prioritisation: use gnomAD, ClinVar, and computational scores to rank variants.
- Clinical interpretation: classify variants with ACMG guidelines and prepare clear reports.
Suggested summary
Before starting, you can change the chapters and workload. Choose which chapter to start with. Add or remove chapters. Increase or decrease the course workload.What our students say
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