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Statistical Methods in Medical Research
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Introduction and overview

Robert C Elston

Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, MetroHealth Campus, Case Western Reserve University, Cleveland, Ohio, USA, rce{at}darwin.cwru.edu

Common terms used in genetics with multiple meanings are explained and a brief overview given of the four major areas of genetic epidemiology - the study of familial aggregation, segregation, cosegregation and association. Familial aggregation measures the potential for a trait to have a genetic aetiology. Segregation analysis uncovers single gene segregation. Cosegregation with genetic markers gives rise to linkage, which is used to locate trait genes on the genome. Association analysis is used for fine mapping, but rests on the assumption that linkage disequilibrium exists.

Statistical Methods in Medical Research, Vol. 9, No. 6, 527-541 (2000)
DOI: 10.1177/096228020000900602
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