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The heritability of human disease: estimation, uses and abuses.

Tenesa, Albert, Haley, Chris S.·2013·Nature Reviews Genetics

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Abstract

Relatives provide the basic material for the study of inheritance of human disease. However, the methodologies for the estimation of heritability and the interpretation of the results have been controversial. The debate arises from the plethora of methods used, the validity of the methodological assumptions and the inconsistent and sometimes erroneous genetic interpretations made. We will discuss how to estimate disease heritability, how to interpret it, how biases in heritability estimates arise and how heritability relates to other measures of familial disease aggregation.

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Authors: Tenesa, A., & Haley, C. S.
Affiliations: Roslin Institute (GB)
Corresponding author: Tenesa, Albert
ORCID: Tenesa, Albert
Haley, Chris S.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2013-01-18
Volume: 14
Issue: 2
Pages: 139-149
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg3377
OpenAlex: W2040924786
Cited by: 283
References: 90
Citations by year: 2026: 10 · 2025: 13 · 2024: 13 · 2023: 15 · 2022: 20 · 2021: 24 · 2020: 22 · 2019: 30 · 2018: 35 · 2017: 20 · 2016: 23 · 2015: 27 · 2014: 22 · 2013: 9
FWCI: 3.27
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: Cancer Research UK (C12229/A13154, 13154)
Medical Research Council
Biotechnology and Biological Sciences Research Council (BBS/E/D/20211553, BB/K000195/1)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: heritability, human disease, heritability estimation, genetic and environmental contributions, phenotypic variance, familial aggregation, relatives
MeSH terms: Disease, Environment, Female, Humans, Male, Models, Genetic, Pedigree, Models, Statistical, Bias, Linear Models, Twin Studies as Topic, Genetic Predisposition to Disease, Genetic Association Studies

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The heritability of human disease: estimation, uses and abuses.

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