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Next Generation Sequencing to identify the disease gene in unclear neurogenetic disorders
Lecturer:
Prof. Dr. med. Jutta Gärtner
Course typ:
Blockveranstaltung
Description:
On the 2nd day of the course please bring your own laptop.


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)

-       Biological interpretation of detected variants (conservation, functional consequence…)

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

-       Examples of newly identified disease genes

 

 

Day 2:

-       Introduction in basic laws of inheritance

-       Analysis platform: Varbank

-       Practical part: Analysis of exome-seq experiment with focus in biological interpretation
Place:
unspecified
Semester:
SoSe 2018
Times:
Dates on Monday, 13.08.2018 - Tuesday, 14.08.2018 09:00 - 23:59
First appointment: Monday, 13.08.2018 09:00 - 23:59
Course number:
340339
Participants:
Target group: GGNB and GAUSS doctoral students.
Learning organisation:
The course will be given by Prof. Jutta Gärtner, Dr. Susann Diegmann and Dr. Katharina Ternka Dr. Susann Diegmann: susann.weissbach@med.uni-goettingen.de Dr. Katharina Ternka: katharina.raasch@med.uni-goettingen.de The course will take place at the Department of Child and Adolescent Health, Robert-Koch-Str. 40, Room 1D4 150.
Area classification:
Vorlesungsverzeichnis SoSe 2018 > Forschungseinrichtungen > Göttinger Graduiertenschulen > Georg-August University School of Science (GAUSS) > Göttinger Graduiertenschule für Neurowissenschaften und molekulare Biowissenschaften (GGNB) > Methods Courses > Molecular & Cellular Neuroscience, Electrophysiology
ECTS credit points:
1.0
Further information from Stud.IP about this course
Home institute: Göttinger Graduiertenzentrum für Neurowissenschaften, Biophysik und molekulare Biowissenschaften (GGNB)
Participants registered in Stud.IP: 2
Number of postings in Stud.IP forum: 2