Abstract
This chapter introduces the basic concepts of fundamental methods for genotype-phenotype association studies and relevant issues in interpretation of genetic epidemiology studies to clinicians. An overview of genetic association studies is provided, which is the current state-of-the-art for clinical and translational genetics. Discussion of future directions in this field is also included.
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Morton NE, Chung CS. Genetic epidemiology. New York: Academic; 1978.
Mendel G. Versuche über Pflanzen-Hybriden. Verh. Naturforsch. Ver. Brünn 4: 3–47 (in English in 1901, J. R. Hortic. Soc. 26: 1–32)1866.
Kehrer-sawatzki H, Cooper DN. Copy number variation and disease. Basel/London: S Krager; 2009.
Bell J, Haldane JBS. The linkage between the genes for colour-blindness and haemophilia in man. Proc R Soc (Lond) B. 1937;123:119–50.
Hartl DL, Clark AG. Principles of population genetics. Sunderland: Sinauer Associates; 2007.
Istrail S, Waterman M, Clark A. Computational methods for SNPs and haplotype inference. New York: Springer; 2004.
Khoury MJ, Beaty TH, Cohen BH. Fundamental of genetic epidemiology. New York: Oxford University Press; 1993.
Ziegler A, Konig IR. Statistical approach to genetic epidemiology: concepts and applications. Weinheim: Wiley-VCH Verlag GmbH & Co. KGaA; 2006.
Knowler WC, Williams RC, Pettitt DJ, Steinberg AG. Gm3;5,13,14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture. Am J Hum Genet. 1988;43(4):520–6.
Khoury MJ, Burke W, Thomson EJ. Genetics and public health in the 20th century. New York: Oxford University Press; 2000.
Additional References and Recommended Readings
1000 Genomes: http://www.1000genomes.org/
dbSNP National Center for Biotechnology Information (NCBI): http://www.ncbi.nlm.nih.gov/SNP/
ENCODE: https://genome.ucsc.edu/encode/
Human Genome Project: http://www.genome.gov/10001772
International HapMap Project: http://hapmap.ncbi.nlm.nih.gov/
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Shrestha, S., Arnett, D.K. (2014). Research Methods for Genetic Studies. In: Glasser, S. (eds) Essentials of Clinical Research. Springer, Cham. https://doi.org/10.1007/978-3-319-05470-4_11
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DOI: https://doi.org/10.1007/978-3-319-05470-4_11
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