Genomics Course
This course teaches whole-exome sequencing for rare familial disorders. You will learn quality control, read alignment, variant calling, annotation, filtering, prioritisation, validation, and clinical reporting. Gain practical skills to analyse raw genomic data and produce actionable insights for cancer predisposition and rare diseases using best practices.

flexible workload of 4 to 360h
valid certificate in your country
What will I learn?
Gain hands-on experience in whole-exome sequencing workflow for rare familial disorders, covering study design, data quality checks, alignment, variant detection, joint genotyping, annotation, frequency filtering, prioritisation, validation, and clinical reports with focus on germline cancer risks.
Elevify advantages
Develop skills
- Plan small familial exome projects for rare Mendelian diseases.
- Align WES reads, check quality, and correct common issues.
- Run germline variant callers and adjust filters for accurate results.
- Use gnomAD, ClinVar, and prediction tools to prioritise variants.
- Apply ACMG guidelines to classify variants and prepare 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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