To establish precision medicine in the health care service, there is a need for doctors and clinical laboratory geneticists to understand how to interpret and use genetic variant information from next generation sequencing technology, in the clinic. This course focusses on the interpretation of single nucleotide variants and copy number variants from exome sequencing data for obtaining a genetic diagnosis. Lectures address topics like filtering strategies, population frequencies, ACMG guidelines, and HGVS nomenclature. During practical sessions you will apply the material from the lectures to obtain a genetic diagnosis for real-life exome cases. The course is intended for individuals that have beginning or intermediate experience with exome sequencing.
Workshop Instructors:
- Christian Gilissen, bioinformatician, expert in WES analysis
- Rolph Pfundt, clinical molecular geneticist, expert in cytogenetics of WES
- Helger Yntema, clinical molecular geneticist, expert in molecular interpretation of WES
- Siddharth Banka, clinical geneticist, expert in WES and research applications
Day 1: Thursday, June 4, 2020
| 08:30-09:00 | Registration |
| 09:00-09:45 | Lecture: General background on WES sequencing and bioinformatics |
| 09:45-10:30 | Lecture: Exome data interpretation of SNVs |
| 10:30-10:45 | Coffee Break |
| 10:45-12:15 | Workshop: Exome interpretation of SNVs with cases |
| 12:15-12:30 | Q&A |
| 12:30-13.30 | Lunch |
| 13:30-14:00 | Lecture: Technical challenges in SNV detection and interpretation |
| 14:00-14:45 | Lecture: Exome data interpretation of CNVs |
| 14:45-15:00 | Coffee Break |
| 15:00-16:30 | Workshop: Exome interpretation CNVs with cases |
| 16:30-17:00 | Q&A, Wrap-up |
Day 2: Friday, June 5, 2020
| 09:00-09:45 | Lecture: Complex WES cases |
| 09:45-11:15 | Workshop: Exome data interpretation of complex cases |
| 11:15-11:30 | Coffee Break |
| 11:30-12:30 | Interesting cases by participants that they present |
| 12:30-13:30 | Lunch |
| 13:30-16:30 | to be announced |
| 16:30-17:00 | Q&A, Wrap-up |