Download Human Genome Epidemiology: A Scientific Foundation for Using by Muin J. Khoury, Julian Little, Wylie Burke PDF

By Muin J. Khoury, Julian Little, Wylie Burke

Advances in genomics are anticipated to play a critical position in medication and public wellbeing and fitness sooner or later by way of delivering a genetic foundation for sickness prediction and prevention. The transplantation of human gene discoveries into significant activities to enhance future health and forestall affliction will depend on clinical details from a number of disciplines, together with epidemiology. This e-book describes the $64000 function that epidemiologic tools play within the continuum from gene discovery to the improvement and alertness of genetic assessments. It proceeds systematically from the basics of genome know-how and gene discovery, to epidemiologic ways to gene characterization within the inhabitants, to the evaluate of genetic exams and their use in well-being providers. those methodologic methods are then illustrated with numerous disease-specific case reports. The publication presents a systematic beginning that would aid researchers, coverage makers, and practitioners combine genomics into scientific and public wellbeing and fitness perform.

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Extra resources for Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease (Monographs in Epidemiology and Biostatistics)

Example text

Bruns DE, Huth EJ, Magid E, Young DS. Toward a checklist for reporting of studies of diagnostic accuracy of medical tests. Clin Chem. 2000;46:893-895. 42. National Cancer Institute. Innovative study designs and analytic approaches to the genetic epidemiology of cancer. Monographs of JNCI 1999;26:1-105. 43. Little J et al. HuGE paper 1. Am J Epidemiol 2002; 156:300-310. 44. Burke W, Atkins D, Gwinn M, et al. Genetic test evaluation information needs of clinicians, policy makers and the public. Am J Epidemiol 2002;156:311-318.

3). DNA Microarrays Because of the molecular complexity of many human diseases, thousands of polymorphisms in many candidate genes may need to be assayed to have a clear understanding of genetic influences on disease risk. For example, there are an estimated 120,000 cSNPs in the human genome, 40% of which are expected to result in an amino acid substitution. These estimates suggest that nearly 48,000 cSNPs plus an unknown number of functional polymorphisms in regulatory regions controlling gene expression would need to be examined in a comprehensive association study (11).

Bruns DE, Huth EJ, Magid E, Young DS. Toward a checklist for reporting of studies of diagnostic accuracy of medical tests. Clin Chem. 2000;46:893-895. 42. National Cancer Institute. Innovative study designs and analytic approaches to the genetic epidemiology of cancer. Monographs of JNCI 1999;26:1-105. 43. Little J et al. HuGE paper 1. Am J Epidemiol 2002; 156:300-310. 44. Burke W, Atkins D, Gwinn M, et al. Genetic test evaluation information needs of clinicians, policy makers and the public. Am J Epidemiol 2002;156:311-318.

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