Human Genetic Variation Workshop
Royal Society, London 3rd February, 2006

The Task Force have identified genetic variation as one area lacking in common data standards. A working group has been established to look at genetic variation in relation to cancer in terms of the needs of the community and current resource provision. The group will initially focus on sequence variation and aims to establish some recommendations for the reporting of single nucleotide polymorphisms (SNPs) in the context of the needs of the cancer community. The presentations from the workshop are available below:

	Agenda (also available as a webpage) (PDF)
	Introduction and Welcome (Richard Begent) (PPT)
	Overview of the current situation in Genetic Variation and Cancer ‘The COSMIC database and website’ (Richard Wooster) (PPT)
	UK Biobank - Implementation and Roll Out (Steve Walker) (PPT)
	The Mutation Viewer Pipeline: An End-to-End Solution for Storage, Analysis, and Visualization of Mutation Profiling Data (Rakesh Nagarajan) (PPT)
	Dealing with Genetic Variation Data: a diagnostic perspective (Chris Mattocks) (PPT)
	Genotype-Phenotype Databases: Challenges and Solutions (Anthony Brookes) (PPT)
	Developing Standards for Genetic Variation Datasets from Emerging Technologies (Tina Boussard) (PPT)
	Genetic Variation and Cancer - an industry perspective (Adrian Moody) (PPT)
	Report back from Working Groups (PPT)

Click here to download a report on the outcomes of the workshop.