It Takes Two to Tango: Genotyping and Phenotyping in Genome-Wide Association Studies

Ohad Nachtomy, Yaron Ramati, Ayelet Shavit, Zohar Yakhini

Research output: Contribution to journalArticlepeer-review

Abstract

In this article we examine the “phenotype” concept in light of recent technological advances in Genome-Wide Association Studies (GWAS). By observing the technology and its presuppositions, we put forward the thesis that at least in this case genotype and phenotype are effectively coidentifled one by means of the other. We suggest that the coidentiflcation of genotype-phenotype couples in expression-based GWAS also indicates a conceptual dependence, which we call “co-deñnition.” We note that viewing these terms as codeflned runs against possible expectations, viz., that genotypes and phenotypes could ultimately be expressed independently from one another. In addition, the co-definition of genotypes and phenotypes in this context emphasizes the correlative (rather than mechanistic) character of both genotypes and phenotypes in GWAS.

Original languageEnglish
Pages (from-to)294-301
Number of pages8
JournalBiological Theory
Volume4
Issue number3
DOIs
StatePublished - Sep 2009

Bibliographical note

Publisher Copyright:
© 2010, Konrad Lorenz Institute for Evolution and Cognition Research.

Keywords

  • Human Genome Project
  • genetics
  • genome-wide association
  • genotype
  • phenotype
  • regulatory genes

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