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Related Experiment Video

Updated: Feb 8, 2026

Measuring Associative Learning in Chemotaxis of the Nematode Caenorhabditis elegans
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Linkage and association: basic concepts.

Ingrid B Borecki1, Michael A Province

  • 1Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO 63108, USA.

Advances in Genetics
|March 25, 2008
PubMed
Summary

Advances in human genetics and computational power enable genomic scans to find disease genes. Linkage and association studies are key methods for understanding genotype-phenotype relationships and advancing genomic medicine.

Area of Science:

  • Genomics
  • Human Genetics
  • Computational Biology

Background:

  • Human genetic variation characterization has advanced significantly.
  • Computational algorithms and computing power have improved, enabling deeper genome interrogation.

Purpose of the Study:

  • To review basic concepts of gene mapping and discovery.
  • To explain the biological and population genetic basis of linkage and linkage disequilibrium.
  • To discuss approaches for identifying loci influencing complex phenotypes for genomic medicine.

Main Methods:

  • Genomic scans using large marker panels.
  • Linkage studies.
  • Association studies.

Main Results:

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  • Genomic scans can identify potential disease gene locations.
  • Linkage and association studies are primary analytic approaches for genotype-phenotype relationships.
  • These methods aim to identify loci influencing complex phenotypes.

Conclusions:

  • Current approaches offer unprecedented opportunities to interrogate the human genome.
  • Successes and shortcomings of current methods are discussed.
  • Major challenges in complex trait investigation are highlighted.