Abstract
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 language | English (US) |
|---|---|
| Title of host publication | International Encyclopedia of the Social & Behavioral Sciences: Second Edition |
| Publisher | Elsevier Inc. |
| Pages | 715-724 |
| Number of pages | 10 |
| ISBN (Electronic) | 9780080970875 |
| ISBN (Print) | 9780080970868 |
| DOIs | |
| State | Published - Mar 26 2015 |
| Externally published | Yes |
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Keywords
- Additive genetic variance
- Heritability
- Rare sequence variants
- Variance components
ASJC Scopus subject areas
- Social Sciences(all)
Cite this
Familial Studies : Genetic Inferences. / Diego, Vincent P.; Kent, Jack W.; Blangero, John.
International Encyclopedia of the Social & Behavioral Sciences: Second Edition. Elsevier Inc., 2015. p. 715-724.Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - Familial Studies
T2 - Genetic Inferences
AU - Diego, Vincent P.
AU - Kent, Jack W.
AU - Blangero, John
PY - 2015/3/26
Y1 - 2015/3/26
N2 - 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.
AB - 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.
KW - Additive genetic variance
KW - Heritability
KW - Rare sequence variants
KW - Variance components
UR - http://www.scopus.com/inward/record.url?scp=85043426968&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85043426968&partnerID=8YFLogxK
U2 - 10.1016/B978-0-08-097086-8.82029-2
DO - 10.1016/B978-0-08-097086-8.82029-2
M3 - Chapter
SN - 9780080970868
SP - 715
EP - 724
BT - International Encyclopedia of the Social & Behavioral Sciences: Second Edition
PB - Elsevier Inc.
ER -