Genomics Course
This course offers hands-on training in whole-exome sequencing (WES) for diagnosing rare inherited disorders, covering study design, data processing, variant analysis, and 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 process for whole-exome sequencing in rare family disorders. You will learn how to design studies, check raw data quality, align sequences, call variants, and do joint genotyping using the best current methods. You will gain practical skills in annotating variants, filtering by population frequency, prioritising variants, validating them, and preparing clinical reports, 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 correct common problems.
- Variant calling & filtering: run germline variant callers and adjust thresholds for clean VCF files.
- Annotation & prioritisation: use gnomAD, ClinVar, and computer-based scores to rank potential variants.
- Clinical interpretation: classify variants using ACMG guidelines and write 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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