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Finding genes and specific genetic variants responsible for disease

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0002
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

In this chapter different approaches to defining the genetic basis of disease are introduced including linkage analysis, positional cloning, linkage disequilibrium mapping and genetic association ... More


Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases

Muin J. Khoury, Lars Bertram, Paolo Boffetta, Adam S. Butterworth, Stephen J. Chanock, Siobhan M. Dolan, Isabel Fortier, Montserrat Garcia-Closas, Marta Gwinn, Julian P. T. Higgins, A. Cecile J. W. Janssens, James M. Ostell, Ryan P. Owen, Roberta A. Pagon, Timothy R. Rebbeck, Nathaniel Rothman, Jonine L. Bernstein, Paul R. Burton, Harry Campbell, Anand P. Chokkalingam, Helena Furberg, Julian Little, Thomas R. O’Brien, Daniela Seminara, Paolo Vineis, Deborah M. Winn, Wei Yu, and John P. A. Ioannidis

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0012
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter reports the findings and recommendations from a multidisciplinary workshop, including geneticists, epidemiologists, journal editors, and bioinformatics experts, that was sponsored by the ... More


Integration of the evidence on gene–disease associations: methods of HuGE reviews

Julian P. T. Higgins and Julian Little

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0011
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Human Genome Epidemiology (HuGE) reviews have been a cornerstone of the efforts of the Human Genome Epidemiology Network (HuGENet) to develop an online resource to house the cumulative and changing ... More


Genetic Association Studies

Ezra Susser, Sharon Schwartz, Alfredo Morabia, and Evelyn J. Bromet

in Psychiatric Epidemiology: Searching for the Causes of Mental Disorders

Published in print:
2006
Published Online:
September 2009
ISBN:
9780195101812
eISBN:
9780199864096
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195101812.003.29
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter focuses on genetic association studies. The goal of genetic association studies is to investigate the effects of genotypic variation on disease risk. These designs are built on a concept ... More


Genetic Predictors of Obesity

Frank B. Hu

in Obesity Epidemiology

Published in print:
2008
Published Online:
September 2009
ISBN:
9780195312911
eISBN:
9780199865260
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195312911.003.0021
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter begins with a review of the genetic factors underlying monogenic and syndromic forms of obesity. It describes the genetics of common obesity, with a particular focus on results from ... More


Genetic trait associations

Joel T. Dudley and Konrad J. Karczewski

in Exploring Personal Genomics

Published in print:
2013
Published Online:
December 2013
ISBN:
9780199644483
eISBN:
9780191774577
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199644483.003.0006
Subject:
Biology, Evolutionary Biology / Genetics

This chapter talks about the primary application of personal genomics: mainly to understand and evaluate the genetic components of personal traits, including one's risk to acquire certain various ... More


Medically relevant variation in the human genome

Diddahally R. Govindaraju and Lynn B Jorde

in Evolution in Health and Disease

Published in print:
2007
Published Online:
April 2010
ISBN:
9780199207466
eISBN:
9780191728167
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199207466.003.0003
Subject:
Biology, Evolutionary Biology / Genetics

Geneticists can now use several million markers to discover genes contributing to human disorders. Some findings confirm classical patterns on the extent and distribution of variation among ... More


Dopamine: Another “Magic Bullet” for Caregiver Responsiveness?

Viara Mileva-Seitz, Veronica M. Afonso, and Alison S. Fleming

in Evolution, Early Experience and Human Development: From Research to Practice and Policy

Published in print:
2012
Published Online:
January 2013
ISBN:
9780199755059
eISBN:
9780199979479
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199755059.003.0009
Subject:
Psychology, Developmental Psychology, Evolutionary Psychology

Mammalian mothering is complex and multidimensional, regulated by many hormonal, neurochemical, and neural changes occurring during pregnancy and in the postpartum period. This chapter outlines the ... More


Exploring Personal Genomics

Joel T. Dudley and Konrad J. Karczewski

Published in print:
2013
Published Online:
December 2013
ISBN:
9780199644483
eISBN:
9780191774577
Item type:
book
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199644483.001.0001
Subject:
Biology, Evolutionary Biology / Genetics

This book provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. The material ... More


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