Familial Studies: Genetic Inferences

Vincent P. Diego, Jack W. Kent, John Blangero

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations


Most human characteristics (including behavioral and neurocognitive phenotypes) are influenced to some extent by heritable genetic variation. The concept of heritability, which is a measure of the relative amount of observed phenotypic variance that is attributable to genes, has had a long and controversial history in human genetics. Inference about heritability obtained from familial relationships predated and informed the discovery of the cellular and biochemical mechanisms of inheritance. Our recent ability to obtain complete DNA sequence of individual genomes reveals the full extent of human genetic diversity, and allows for identification of empirical patterns of kinship when family structure is unknown. In this context, the tools of statistical genetics remain essential for quantifying, identifying, and interpreting causal relationships of genetic variation to traits of interest. This article reviews key concepts and controversies in statistical genetics and introduces recent advances in efficient inference from complex pedigrees.

Original languageEnglish (US)
Title of host publicationInternational Encyclopedia of the Social & Behavioral Sciences: Second Edition
PublisherElsevier Inc.
Number of pages10
ISBN (Electronic)9780080970875
ISBN (Print)9780080970868
StatePublished - Mar 26 2015
Externally publishedYes


  • Additive genetic variance
  • Heritability
  • Rare sequence variants
  • Variance components

ASJC Scopus subject areas

  • Social Sciences(all)


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