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

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

Date(s): 22-23 June 2010

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

Location »

Online Application Period: 17 May - 14 June 2010

 Read a report of the Human Disease Genomics course here


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

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The analysis of genetic determinants in human disease, particularly in multifactorial conditions such as cardiovascular disease, diabetes and schizophrenia, has advanced considerably in recent years due to the availability of high-density maps of Single Nucleotide Polymorphism (SNP) markers, new insights into human genome structure from the International HapMap Project and novel analytical methods. This course, running over two days, aims to introduce researchers to key strategic considerations in designing and performing gene-mapping studies. A one-day lecture course (Tue 22 June) will introduce SNPs and haplotypes, genetic association and study design, genome-wide association studies and the use of next generation sequencing technology. This will be followed by talks focusing on applications in various disease areas.

Lecture course Fees (does not include Workshop)

  • Academic Rate: No Charge
  • Non-academic rate: 300 Euros

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

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LECTURES: Tue 22 June; 0945-1730
0945 Introduction to SNP's and Haplotypes
Dr Ross McManus (TCD)

Genome-Wide Association Study Design
Prof Denis Shields (UCD)

1100 Following-Up Genome-Wide Association Studies
Dr Ric Anney (TCD)
1130 Coffee/Tea
1200 Copy Number Variation and Structural Rearrangements
Dr Sean Ennis (UCD)

Sponsor Keynote - 454 Sequencing: Applications in Human Disease Research
Andrew Livingston (Roche Diagnostics)




Using Next-Generation Sequencing to Interrogate the Genome
Prof Brendan Loftus (UCD)


Using Next-Generation Sequencing to Identify Rare Variants: Applications in Schizophrenia Research
Dr Derek Morris (TCD)


SNPs and Next-Generation Sequencing in the Study of Single Gene Disorders: Applications in Study of Sensory Phenotypes
Dr Sean Ennis (UCD)




How We Can Use Modern Transcriptomic Methodologies to Gain Insights into Cancer
Dr Adrian Bracken (TCD)


HRB - TCD Doctoral Programme in Molecular Medicine Keynote Public Lecture:
Rare and Common Variants in Human Disease
Prof B. David Goldstein (Duke Institute for Genome Sciences & Policy)

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Click here for abstracts

Workshop: Wed 23 June

A practical workshop on the following day (Wed 23 June) 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. You must apply online to attend the lecture course before applying for this workshop. There is no charge for academic attendees.

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 lectures (22 June), 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.

More details of the Workshop here

Course Faculty

Dr Ric Anney (Institute of Molecular Medicine, St James's Hospital, TCD)
Dr Adrian Bracken (Smurfit Institute of Genetics ,TCD)

Dr Sean Ennis*  (Our Lady's Hospital for Sick Children and School of Medicine & Medical Science, UCD)
Prof B. David Goldstein (Duke Institute for Genome Sciences & Policy)
Prof Brendan Loftus*  (UCD Conway Institute of Biomolecular & Biomedical Research)
Dr Ross McManus*  (Institute of Molecular Medicine, St James's Hospital, TCD)
Dr Derek Morris*  (Institute of Molecular Medicine, St James's Hospital, TCD)
Prof Denis Shields* (UCD Conway Institute of Biomolecular & Biomedical Research)

* Scientific Organising Committee Members

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Course Sponsors

Major Sponsor: