Overview and purpose of the course
To enable human geneticists to analyse their large-scale genetic data using standard analytical approaches and freely available software tools. The course will cover statistical background for association studies; primer on scripting in the most frequently used computational environments, design and analysis of such studies, interpretation of the results. Each topic will be covered by a lecture, followed by a practical exercise, which will include use of the state-of-art software tools and example datasets. Practical exercises will be tailored to illustrate the ideas discussed during lectures and will be accompanied by discussion of the results.
Applicants should understand basic genetic principles such as modes of inheritance, DNA and gene structure, SNPs and other genetic variants, principles of crossingover and recombination, concepts of heritability and penetrance. Additionally, knowledge of basic statistical tests and some command line scripting skills would be an advantage.
At the end of the course, the participants will be able to undertake quality control, imputation and analysis of genome-wide data using standard statistical approaches and software tools. Meta-analysis of genome-wide association studies and analysis of rare variants will also be among their skills. They will be able to evaluate critically the results of association analysis and visualise them. They will know the requirements to the study design and findings for publications in peer-reviewed journals.
There will be no need to bring own laptop or data. The computers will be available at the venue; datasets will be designed and provided for each analytical exercise.
Inga Prokopenko, PhD, Senior Lecturer in Human Genomics, Imperial College London, London, UK
Andrew Morris, PhD, Professor of Statistical Genetics, Wellcome Trust Senior Research Fellow in Basic Biomedical Science, University of Liverpool, Liverpool, UK
Reedik Mägi, PhD, Senior Research Fellow, Head of Bioinformatics workgroup, Estonian Genome Center, University of Tartu, Tartu, Estonia
Krista Fischer, PhD, Senior Research Fellow, Estonian Genome Center, University of Tartu, Tartu, Estonia
Marika Kaakinen, PhD, PostDoctoral Marie Curie Research Fellow, Imperial College London, London, UK
Three guest lectures will be given by renowned scientists in the field of human genetics:
Professor Philippe Froguel - Chair in Genomic Medicine, Imperial College London
Professor Gert-Jan van Ommen
Professor Cisca Wijmenga
Who should attend?
Geneticists facing the need to analyse large-scale human genotyping data in relation to their effect on common human traits and diseases. Scientists aiming to undertake genome-wide association studies and their meta-analyses. Researchers willing to understand better the statistical approaches and analytical procedures for the genetic association studies.
Hundreds or thousands of individuals in the dataset and information on millions of genetic variants – the data has to be analysed appropriately to be publishable. Statistical, computational and analytical skills of geneticists in Europe are a key factor for the advancement of science, the development of international collaborations and the rise of new research teams from a wider range of countries to the light of great discoveries.
The participants who attend the course will be able to understand the meaning and role of statistical analyses and obtained results in genetic studies. They will be able to analyse genetic data from both, custom genotyping and large-scale genome-wide genotyping arrays using standard approaches and tools widely used by the scientific community.
Course fees (accommodation and registration)
£850 for academic applicants
£1250 for commercial/non-academic applicants
Accommodation cost (5 nights stay, arrival July 3, departure July 8) is included in the course fee.
If registration and accommodation fees are paid in full before 1 May 2017 a discount of £100 will be applied. Scholarships will cover the full registration and accommodation.
All participants would need to pay for travel and additional subsistence (lunch provided at the teaching venue).