Personal genomes: The case of the missing heritability
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Despite ever increasing sample sizes and marker densities, most of the genetic variance of complex traits remains unaccounted for in genome-wide association studies.
“Despite ever increasing sample sizes and marker densities, most of the genetic variance of complex traits remains unaccounted for in genome-wide association studies [114].”
From Integrating Crop Growth Models with Whole Genome Prediction through Approximate Bayesian Computation (2015) · cites this paper as [114]
The Abstract says that GWAS have identified hundreds of variants, but their cumulative effects remain far too small to explain heritability estimates for complex traits. “Right under everyone's noses” and “Out of sight” discuss denser examination and larger samples as ways to find more missing heritability; they do not establish the claim's premise that sample sizes and marker densities had already been continually increasing. (LLM, conf=0.83)
Experimental — accuracy not yet measuredLoci detected by GWAS almost always explain only a small minority of the inferred genetic variance.
“loci detected by GWAS almost without exception explain a small minority of the inferred genetic variance5,6”
From Rare and common variants: twenty arguments (2012) · cites this paper as [5]
The common disease-common variant hypothesis has been refuted by the missing heritability problem.
“When GWAS began the field was dominated by the simple common disease-common variant (CD-CV) hypothesis1–4 has been refuted in light of the so-called ‘missing heritability problem’”
From Rare and common variants: twenty arguments (2012) · cites this paper as [5]
The simplest explanation for GWAS failing to find missing heritability is that expectations were based on unrealistic prior assumptions about effect sizes.
“While there has been a very public focus on the failure of GWAS to find the missing heritability5,6, the simplest explanation for this is that the expectations were based on unrealistic prior assumption of effect sizes.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [5]
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- Authors
- Maher, B.
- Corresponding author
- Maher, Brendan
- Venue
- Nature
- Published
- 2008-11
- Volume
- 456
- Issue
- 7218
- Pages
- 18-21
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2070082005
- Cited by
- 1,737
- References
- 12
- Citations by year
- 2026: 27 · 2025: 31 · 2024: 54 · 2023: 62 · 2022: 72 · 2021: 72 · 2020: 73 · 2019: 80 · 2018: 85 · 2017: 101 · 2016: 109 · 2015: 151 · 2014: 113 · 2013: 157 · 2012: 165
- Type
- other
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- 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 › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- missing heritability, common genetic variants, genome-wide association study, genetic architecture of complex traits, polygenic risk, heritability
- MeSH terms
- Animals, Body Height, Child, Epistasis, Genetic, Humans, Individuality, Genome, Human, Gene Dosage, Penetrance, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genomics, Heredity, Mice, Genome-Wide Association Study
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