BioBase Course: Introduction to the HGMD® database for genome variation and NGS data analysis

Course date: 16 September 2013 - 16 September 2013
Location: Erasmus MC, Ee-1528

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The Postgraduate School Molecular Medicine organizes together with the dept. of Bioinformatics of the Erasmus MC and the company BioBase International this half day introductory training course at the Erasmus MC.

Introduction
This training course gives an introduction to the HGMD® database for genome variation and NGS data analysis. HGMD® is used to:
-   quickly verify novel mutations
-   understand the mutational spectrum of a particular gene or disease
-   assessing individual disease risk

Program
The course program covers lectures and practical sessions on the use of the HGMD database: featured content, database searches and queries for information of interest.

The students will learn to:
- look up mutation information for a gene of interest
- filter a gene’s mutation information by an associated disease
- look up mutation information for a disease of interest
- browse for mutations by type of mutation (missense, nonsense, indel, etc.)
- perform advanced searches to identify mutations by criteria such as nucleotide and amino acid sequence context, affected genomic features, and more
- export mutation tracks for viewing in UCSC’s genome browser

Location
Dept. of Bioinformatics, computer room, Ee 15.28 (15th floor), Erasmus MC, Medical Faculty

Duration
9.00 – 12.30 (half day, coffee & tea included)
   
Maximum participants
18 (due to number of computers available)  



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