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

June 4-5, 2020

Berlin Messe – CityCube
Messedamm 26, 14055 Berlin

Registration Fees:  € 200,00
Attendance limited to 40 participants.

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

Download the detailed
programme as PDF here:

Detailed Programme