Module: Diagnostic Genome Analysis

* depending on the student population

Cursusdoelen (leerdoelen)

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 Store the relevant information in a SQLite database 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.

Literatuur en andere bronnen

Literature

• Introduction to Bioinformatics 4th Edition. ISBN-13:978-0199651566

Web

• Blackboard course of the minor

Competences

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Method

• project work

Entry demands

• You need to be enrolled in a Bachelor programme in the Domain of Applied Science.

Entry demands for test

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Foreknowledge

• We assume knowledge of the central dogma of biology

Foreknowledge can be obtained through

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Resources for self study

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Mandatory materials

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Recommended materials

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