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MMI Workshop - Human Disease Genomics: SNPs, GWAS and Next-Gen Sequencing - Day 2

Title: MMI Workshop - Human Disease Genomics: SNPs, GWAS and Next-Gen Sequencing - Day 2

Date(s): Thursday 28 June 2012
Please note that you must also attend the lecture course on 27 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: 21 May - 10 Jun 2012


Read a report on the Human Disease Genomics workshop here 

Dr Overduin and Workshop Attendees in 2010


IMPORTANT: This course comprises a lecture element (Day 1 / 27th June) and the below workshop (Day 2 / 28th June). Please note that there is a limited number of places available for this practical workshop.

Attendance to the lecture course is compulsory in order to attend the workshop
You can apply online to attend the lecture course here


This MMI practical workshop is in addition to the one-day lecture course taking place on 27 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 Fees -  Day 2 workshop only

  • MMI Partner Institutions:
    Postgraduate student, postdoctoral researcher, or member of staff in NUI Galway, RCSI, TCD, UCC, UCD and affiliated hospitals: Free of charge
  • Other Institutions:
    Academic Rate:  100 Euros
    Non-academic rate: 600 Euros
    Please note that there is a separate charge for the lecture course

The registration charges do not include accommodation or travel. Please contact for further information

Workshop Instructor:

  • Dr Denise R. Carvalho-Silva (Ensembl Outreach Officer, Vertebrate Genomics Team, EMBL - European Bioinformatics Institute, Wellcome Trust Genome Campus)

Programme  - Thu 28 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



Online Application has closed.