Genomics Course
This course offers a comprehensive, hands-on introduction to whole-exome sequencing (WES) analysis for identifying genetic variants in rare familial disorders, emphasizing best practices from study design to clinical reporting with a focus on inherited cancer risks.

from 4 to 360h flexible workload
valid certificate 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 Mendelian disease.
- Read alignment & QC: align WES reads, assess quality, and fix common artefacts.
- Variant calling & filtering: run germline callers and tune cutoffs for clean VCFs.
- Annotation & prioritisation: use gnomAD, ClinVar, and in silico scores to rank hits.
- Clinical interpretation: classify variants with ACMG rules and draft clear reports.
Suggested summary
Before starting, you can change the chapters and the 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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