Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):119-32.
Genetics for clinicians: From candidate genes to whole genome scans (technological advances).
SourceCommunity Prevention Unit, Institute of Social and Preventive Medicine, Route de la Corniche 2, CH-1066 Epalinges, Switzerland.
AbstractHuman genetics has progressed at an unprecedented pace during the past 10 years. DNA microarrays currently allow screening of the entire human genome with high level of coverage and we are now entering the era of high-throughput sequencing. These remarkable technical advances are influencing the way medical research is conducted and have boosted our understanding of the structure of the human genome as well as of disease biology. In this context, it is crucial for clinicians to understand the main concepts and limitations of modern genetics. This review will describe key concepts in genetics, including the different types of genetic markers in the human genome, review current methods to detect DNA variation, describe major online public databases in genetics, explain key concepts in statistical genetics and finally present commonly used study designs in clinical and epidemiological research. This review will therefore concentrate on human genetic variation analysis.
Copyright © 2011 Elsevier Ltd. All rights reserved.
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