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Advanced Genetics and Genomics

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Tutors: Professor Ian Day and Dr Philip Guthrie (organisers), Dr Santiago Rodriguez, Dr Tom Gaunt, Dr Ruth Newbury-Ecob, Dr Anne Gardner and others.

Download the Booking Form.

Duration: One day.

Dates: 27 May 2011.

Course fee: £180.

Course aims and objectives: The aim of this course is to cover aspects of genomic complexity other than SNPs addressing the wider structure and function of the genome relevant to genetic epidemiology.

PLEASE NOTE: A basic knowledge of human genetics and genomics is assumed both for the Genetic Association course and for the Advanced Genetics and Genomics course. The Basic Genetics and Genomics short course immediately preceding these courses may be helpful. The three courses together have been prepared as an integrated set taking one week in total.

By the end of the course participants should:

  • Have a wide knowledge of the full spectrum of genetic diversity and categories of genomic variation other than single base polymorphisms
  • Have an appreciation of the relevance of such loci to genomic function, to genetic epidemiology and genetic analysis
  • Have insight into the different information resources and statistical approaches to handling such regions in genetic epidemiology

Who the course is intended for: The course is designed for medical researchers who wish to advance their understanding of the genomic, molecular and functional side of genetic epidemiology. It is open to anyone but participants are strongly recommended already to have a basic knowledge of genomic and molecular genetics at least to the level of our Basic Genetics and Genomics Short Course and our Genetic Association Studies course and this level is assumed in the pitch of the course content.

Course content: Topics to be covered include: segemental duplication and copy number variations, minisatellites, microsatellites, rarer sequence variants, Y chromosome, mitochondrial genome, imprinting, somatic changes in cancers and ageing, telomeres, centromeres, repetitive elements such as LINEs and SINEs, microRNA genes, all the new aspects coming from ENCODE studies, chromatin and scaffold, non-genic GWAS hits etc and their contributions to function and disease risks, mutation both in clinical genetic and other contexts, and to ancestry evaluation. Heterogeneity at molecular and statistical levels (locus heterogeneity, allelic heterogeneity, gene-gene-environment complexities) will also be considered.

Suggested pre-course reading:

Human Molecular Genetics 4th Edition. Tom Strachan, Andrew Read ISBN: 0-8153-4149-0 / ISBN-13: 978-0-8153-4149-9 - Hardback. Taylor and Francis. (This could be considered an MSc level book in human genetics, which is far more than you will need before the course, but it would be a very suitable book to own in the longer term for anyone wanting to go to a full depth of genomic and genetic knowledge in conjunction with genetic epidemiological research and the level at which this course is pitched. It would also be a good text into which to dip to get an idea of the wide range of aspects to the human genome and genetic variation relevant to diseases, rare and common).

Teaching time: One day of teaching, discussion and exercises.

For further information please contact short-course@bristol.ac.uk