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The Bristol Genetic Epidemiology Laboratories are part of the Department of Social Medicine at the University of Bristol, and housed within the ALSPAC laboratories. Ongoing research themes include Genetic and Molecular Epidemiology, Population Genetics and Bioinformatics. The development of BGEL is led by Ian Day, Professor of Genetic and Molecular Epidemiology.

Staff (alphabetical order):

• Ian N. M. Day, Professor of Genetic and Molecular Epidemiology
• Tom R. Gaunt, Lecturer in Bioinformatics and Molecular Genetics
• Philip Guthrie, Research Associate in Molecular Genetics and Bioinformatics
• Santiago Rodriguez, Lecturer in Population and Molecular Genetics
• Gemma Wiacek, Research Technician
  

PhD students (alphabetical order):

• Chris Raistrick, PhD student in Bioinformatics

In Genetic and Molecular Epidemiology the group has three main themes of research: integrative polygene analyses, mRNA functional studies and rarer sequence variants at the population level. A small sample of publications:

• Day IN, Rodriguez S, Kralovicova J, Wood PJ, Vorechovsky I, Gaunt TR. Questioning INS VNTR role in obesity and diabetes:subclasses tag IGF2-INS-TH haplotypes;and -23HphI as a "STEP" (splicing and translation efficiency polymorphism). Physiol Genomics. 2006 [Epub ahead of print]
• Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O'dell SD, Sayer AA, Lawlor DA, Ebrahim S, Smith GD, O'rahilly S, Farooqi S, Cooper C, Phillips DI, Day IN. Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE Hum Mutat. 2006 [Epub ahead of print]
• Rodriguez S, Gaunt TR, O'Dell SD, Chen XH, Gu D, Hawe E, Miller GJ, Humphries SE, Day IN. Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Hum Mol Genet. 2004 13(7):715-25.

In Population Genetics the group has combined formal Population Genetics and Genetic Epidemiological approaches in relation to genetic association analyses of human complex traits. A small sample of publications:

• Chen XH, Rodriguez S, Hawe E, Talmud PJ, Miller GJ, Underhill P, Humphries SE, Day IN. Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. Hum Hered. 2004;57(3):142-55.
• Rodriguez S, Chen XH, Miller GJ and Day IN. Nonrecombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2743 middle-aged Caucasian men from the UK Hum Genet 2005 116(4): 311-318.

In Bioinformatics and Computational Biology, projects include development of a program for analysis of interallelic linkage disequilibrium between bi- and multi-allelic markers (MIDAS, BMC Bioinformatics 2006) and the mining of EST databases for splicing information (Diabetes 2006). A small sample of publications.

• Gaunt TR, Rodriguez S, Zapata C, Day IN. MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers. BMC Bioinformatics. 2006 Apr 27;7:227.
• Kralovicova J, Gaunt TR, Rodriguez S, Wood PJ, Day IN, Vorechovsky I. Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2? Diabetes. 2006 Jan;55(1):260-4

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