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 data processing to clinical interpretation.

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 familial disorders. You will learn study design, raw data quality control, alignment, variant calling, and joint genotyping using current best practices. Develop 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 artifacts.
- 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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