Next Generation Sequencing to identify the disease gene in unclear neurogenetic disorders

Lecturer:

Dr. rer. nat. Susann Diegmann, Kolja Meier

Course typ:

Blockveranstaltung

Description:

In these 2 days we will give a general introduction to Next Generation Sequencing (NGS) and relevant application in clinical diagnostic, namely to solve unclear neurogenetic disorders. The focus of this course is to learn different filter strategies to extract pathogenic variants under using heredity and biological prediction tools.

Day 1:

- Introduction to NGS (library preparation, sequencing platforms, data generation and analysis)

- Introduction in basic laws of inheritance

- Analysis platform: Varbank2

- Examples of newly identified disease genes

- Practical part: Analysis of exome-seq experiment

Day 2:

- Applications in clinical diagnostic (panel / exome / genome sequencing)

- Science Breakfast (NGS in Newborns)

- Clinical Pipeline: from Patient to NGS results

- Biological interpretation of detected variants (ACMG classification system)

- Practical part: Analysis of exome-seq experiment with focus in biological interpretation

Important:

Once participation has become binding after the signing-out period, cancellation is only possible via the GGNB or GAUSS Office with a) sick certificate, or b) statement by supervisor for scientific reasons. If you do not provide this, you will be excluded from courses for the next 12 months, as well as travel grants and other financial support. No exceptions.

By signing up you agree (1) to carefully check whether you will be able to attend the course (do not register for 2 courses taking place on the same dates - the above mentioned sanctions apply!), (2) to frequently check your student e-mail account, as all information on courses will exclusively be sent to that account; (3) that your name and e-mail address may be forwarded to the course instructor(s) for communication before and after the course; (4) to complete the course evaluation; (5) inform us if you no longer wish to maintain a waiting list position; (6) that you only receive credits for attending the entire workshop - you will not get partial credits for part-time attendance.

Place:

unspecified

Semester:

WiSe 2025/26

Times:

Dates on Wednesday, 11.03.2026 - Thursday, 12.03.2026 09:00 - 16:30
First appointment: Wednesday, 11.03.2026 09:00 - 16:30

Course number:

340456

Further information from Stud.IP about this course

Home institute: Göttinger Graduiertenzentrum für Neurowissenschaften, Biophysik und molekulare Biowissenschaften (GGNB)
Participants registered in Stud.IP: 7
Number of postings in Stud.IP forum: 2