Vak: Diagnostic Genome Analysis credits: 5
- Vakcode
- BFVH15DIAGN
- Naam
- Diagnostic Genome Analysis
- Studiejaar
- 2023-2024
- ECTS credits
- 5
- Taal
- Engels
- Coördinator
- R. Wedema
- Werkvormen
-
- Hoorcollege
- Practicum / Training
- Werkcollege
- Toetsen
-
- Diagnostic Genome Analysis - Opdracht
Leeruitkomsten
After taking this course, you should be able to:
- Asses the quality of next-generation sequence (NGS) data
- Map NGS reads to a reference genome or region(s)
- Determine the mapping quality
- Call variants in the mapped reads
- Determine the possible disease causing variants
- Present your findings in a scientific poster
Inhoud
In this course a wide range of bio-informatics tools will be used on next-generation sequence data from patients to identify genomic variations likely involved in the (possible hereditary) disease cardiomyopathy.
Opgenomen in opleiding(en)
School(s)
- Instituut voor Life Science & Technology