Genetic architecture of quantitative traits and complex diseases

Wenqing Fu, Timothy D. O'Connor, Joshua M. Akey

Research output: Contribution to journalReview articlepeer-review

24 Scopus citations


More than 150 years after Mendel discovered the laws of heredity, the genetic architecture of phenotypic variation remains elusive. Here, we discuss recent progress in deciphering how genotypes map onto phenotypes, sources of genetic complexity, and how model organisms are illuminating general principles about the relationship between genetic and phenotypic variation. Moreover, we highlight insights gleaned from large-scale sequencing studies in humans, and how this knowledge informs outstanding questions about the genetic architecture of quantitative traits and complex diseases. Finally, we articulate how the confluence of technologies enabling whole-genome sequencing, comprehensive phenotyping, and high-throughput functional assays of polymorphisms will facilitate a more principled and mechanistic understanding of the genetic architecture of phenotypic variation.

Original languageEnglish (US)
Pages (from-to)678-683
Number of pages6
JournalCurrent Opinion in Genetics and Development
Issue number6
StatePublished - Dec 2013
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Developmental Biology


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