Genomics Course
This course offers a comprehensive, hands-on introduction to whole-exome sequencing (WES) analysis for identifying genetic variants in rare familial disorders, covering the full pipeline from study design to clinical reporting using industry-standard tools and best practices.

from 4 to 360h flexible workload
certificate valid in your country
What will I learn?
This Genomics Course provides a practical, end-to-end workflow for whole-exome sequencing in rare familial disorders. Learn study design, raw data QC, 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 germline cancer predisposition.
Elevify advantages
Develop skills
- WES study design: plan small familial 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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