Who should attend:
Clinicians, medical doctors, geneticists, genetic counsellors and clinical scientists, who are interested in:
Gaining deep insights about Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) workflow from sample via lab to report
Benefiting from experiences via intensive lectures and hands-on workshops supervised by our experts
Taking the unique opportunity to discuss with our experts and exchange with others from the field
Requirements:
Basic knowledge of molecular genetics and clinical genetics
Basic knowledge of clinical variant databases
Basic understanding of data filtering
Topics:
1. Diagnostic Testing at CENTOGENE
- Overview of diagnostic tests and quality aspects
- Products, services and technical background for WES and WGS
- Company lab tour with extended NGS-laboratory part
2. Bioinformatics
- Lecture: bioinformatics analysis of WES data as well as WGS data
- Hands-on analysis of real WES/WGS cases:
- Alignment, variant calling, and functional annotation of variants by using special bioinformatics pipeline for WES and WGS
3. Medical Evaluation & Reporting
- Indications for WES and WGS and strategies for analyses, comparison of whole genome vs. whole exome sequencing
- Hands-on analysis of real WES/WGS cases:
- Filtering and evaluation of variants using databases
- Interpretation and implication of clinical information
- Medical interpretation and reporting, considering clinical information and incidental findings
4. Additional Training
- CentoPortal®
- HPO terminology and clinical data interpretation
5. Networking at CENTOGENE
- Expertise sharing with colleagues from different countries
- Appointments at Centogene upon request, concerning your individual topics
Price: 1,950 EUR
The workshop fee further includes comprehensive workshop materials, catering during workshop, and a dinner. Computers are provided for data analysis. Free Wi-Fi will be available for tablets, PCs and mobile phones.