Collection of Clinical and Epidemiological Data for Genetic Linkage and Association Studies

Lindsay Farrer1, Mark Logue1

1 Boston University School of Medicine, Boston, Massachusetts
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 1.1
DOI:  10.1002/0471142905.hg0101s72
Online Posting Date:  January, 2012
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Abstract

Modern gene‐mapping can include linkage studies, which correlate the presence of disease to broad genomic regions in either small or large family units, and association studies, which can narrow the location of a disease‐predisposing trait to a single gene using either case‐control or family data. This unit provides an overview of key concepts and presents guidelines for collecting diagnostic, epidemiological, and genealogical data from potential study participants. The commentary discusses the use of publicly available data from online resources, methods for evaluating evidence of genetic versus environmental influences in a disease or disease‐related endophenotype, and use of e‐forms to capture data electronically. Curr. Protoc. Hum. Genet. 72:1.1.1‐1.1.20 © 2012 by John Wiley & Sons, Inc.

Keywords: genetics and genomics; genetic linkage analysis; genetic association analysis

     
 
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Table of Contents

  • Introduction
  • Key Concepts
  • Strategic Approach: Collecting Data for Linkage and Association Studies
  • Commentary
  • Literature Cited
  • Figures
  • Tables
     
 
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Materials

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Figures

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Literature Cited

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Key References
   Khoury et al., 1993. See above.
  A thorough introduction to genetic approaches to familial aggregation.
   Nussbaum, R.L., McInnes, R.R., and Willard, H.F. 2007. Thompson & Thompson Genetics in Medicine. Saunders Elsevier, Philadelphia.
  Contains excellent description of medical genetics concepts.
   Kohane, 2011. See above.
  A detailed overview of the use of electronic medical records in genetic studies of human disease.
Internet Resources
  http://www.omim.org/
  URL for Online Mendelian Inheritance in Man (OMIM). McKisick‐Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, Md.) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Md.).
   http://www.ncbi.nlm.nih.gov/gap
  URL for data base of Genotypes and Phenotypes (dbGaP),National Center for Biotechnology Information, National Library of Medicine (Bethesda, Md.).
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