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Personal genomes: The case of the missing heritability
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In the citing paper
“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]
Experimental — accuracy not yet measuredIn the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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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Metadata
- 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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