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MMI Workshop-Human Disease Genomics: SNPs, GWAS and Next-Gen Sequencing

Title: MMI Workshop-Human Disease Genomics: SNPs, GWAS and Next-Gen Sequencing

Date(s): Wednesday 23 June

Main Venue:
Institute of Molecular Medicine
Trinity Centre for Health Sciences, St James's Hospital, James's Street, Dublin 8

Location »

Online Application Period: Workshop oversubscribed


There is no charge for academic attendees.

This MMI practical workshop is in addition to the one-day lecture course taking place on 22 June (link to course page here). The lecture course, available to a larger audience, introduces SNPs and haplotypes, genetic association and study design, genome-wide association studies and the use of next generation sequencing technology. Other talks focus on applications in various disease areas. You must apply online to attend the lecture course before applying for this workshop.

Those attending the workshop should have some prior experience in using web based sequence databases such as Ensembl, Golden Path (UCSC), etc. Places on the workshop are limited and there is likely to be a high demand. After applying online to attend the lecture course (link to course page here), please send an email to to express your interest in attending the workshop. Please include your name, email address, and a few lines on why you want to attend the workshop and how it will be useful in your research.

This practical workshop is delivered by a representative from the Ensembl project ( The Ensembl project provides a comprehensive and integrated source of annotation of genome sequences. The workshop will provide participants with guided hands-on experience in the use of the Ensembl genome browser and the necessary background information to make best use of this online resource. There will be a focus on the analysis of genetic variation that will complement the day 1 lecture material.

Workshop Instructor: Dr Bert Overduin (Ensembl Helpdesk & Outreach, EMBL – European Bioinformatics Institute, Wellcome Trust Genome Campus)

Programme - Wed 23 June; 0930-1730

Introduction to Ensembl
-Hands-on exercises




Introduction to BioMart Data Mining System
-Hands-on exercises




Variation Information in Ensembl: sequence variants (SNPs, small indels, microsatellites) structural variants (CNVs, GWAS data, Locus Reference Genomic data
-Hands-on exercises




Variation information in Ensembl (continued)


End of Workshop