Gene Variant Database (LSDB) Course - CANCELLED
| Contributed by: | Administrator |
| Originally posted: | 28th March 2011: 9:15 am |
| Last updated: | 12th May 2011: 2:18 pm |
| Short URL: | http://gen2phen.org/node/36981 |
 Public - anyone can view |
Gene variant databases, or Locus-Specific Databases (LSDBs), are used to collect and display information on sequence variants on a gene-by-gene basis. They are used most frequently in relation to DNA-based diagnostics, facilitating clinicians’, scientists’ and patients’ and their families’ easy access to an up-to-date overview of all gene variants identified world-wide. The databases are taken care of by curators, experts in the field who guard the database, ensure regularly updates and check submitted data.
The purpose of this course is to teach the tasks involved in database curation. Using lectures and practicals, we will go through the entire process of database curation, from starting a database, to entering the first data, curating submissions and advertising the resource which has been built. With the experience gained, participants should feel confident to curate a gene variant database.
The course will be organised with the help of the Human Variome Project (HVP) / Human Genome Variation Society (HGVS) and the EU FP7 GEN2PHEN project. During the course we will use the Leiden Open Variation Database (LOVD) platform.
Draft program
Introduction
current standards, database platforms, reference sequences,...
Database structure
existing recommendations, minimal content, genotype/phenotype, public/non-public data,...
Filling the databases
useful resources, searching literature, contacting colleagues,...
Curating incoming information
submitters, checking entries, ensuring privacy,...
Promoting the database
contacting colleagues, journals, patient organisations,...
Discussion
Location
LUMC - Leiden (by train 15 min from Schiphol, 20 min from ESHG meeting, 30 min from central Amsterdam).
Date & Times
Saturday 28 May: 9:00 until 5:00 and tea, coffee and lunch will be provided.
Cost
€50
Location
LUMC
Leiden
Netherlands
See map: Google Maps