ArticleAmerican journal of human genetics2011
Estimating missing heritability for disease from genome-wide association studies.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 684 papers, 15 of them syntheses that pooled it.
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Who cites it
684 citing papers in PubMed, 15 syntheses or guidelines pooled it.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Unravelling sex differences in the genetic architecture of anxiety.Psychological medicine · 2026Pooled it
- Fine-mapping a genome-wide meta-analysis of 98,374 migraine cases identifies 181 sets of candidate causal variants.Nature communications · 2026Pooled it
- Dissecting the genetic and proteomic risk factors for delirium.Nature aging · 2026Pooled it
- Alzheimer disease is (sometimes) highly heritable: Drivers of variation in heritability estimates for binary traits, a systematic review.PLoS genetics · 2025Pooled it
- Sex-stratified genome-wide association meta-analysis of major depressive disorder.Nature communications · 2025Pooled it
- Genome-Wide Association Study of Obsessive-Compulsive Symptoms including 33,943 individuals from the general population.Molecular psychiatry · 2024Pooled it
- Genetic architecture distinguishes tinnitus from hearing loss.Nature communications · 2024Pooled it
- Genetic influences on alcohol flushing in East Asian populations.BMC genomics · 2023Pooled it
- Pervasive Downward Bias in Estimates of Liability-Scale Heritability in Genome-wide Association Study Meta-analysis: A Simple Solution.Biological psychiatry · 2023Pooled it
- A large genome-wide association study of QT interval length utilizing electronic health records.Genetics · 2022Pooled it
- Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals.Translational psychiatry · 2022Pooled it
- Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.Nature genetics · 2022Pooled it
- Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.Nature genetics · 2022Pooled it
- Partitioned glioma heritability shows subtype-specific enrichment in immune cells.Neuro-oncology · 2021Pooled it
- Aberrant one-carbon metabolism and ancestral genetics underlie edematous severe acute malnutrition.Nature communications · 2026Article
- Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Distinguishing different psychiatric disorders using DDx-PRS.Nature genetics · 2026Article
- Partitioning Fraction of Variance Explained into Strong Localized Effects and Weak Diffuse Effects.bioRxiv : the preprint server for biology · 2026Article
- A genome-wide association study of young onset Parkinson's disease in European ancestry.medRxiv : the preprint server for health sciences · 2026Article
624 more citing papers are in PubMed but not listed here.
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4 authors.
Funding
Abstract
Genome-wide association studies are designed to discover SNPs that are associated with a complex trait. Employing strict significance thresholds when testing individual SNPs avoids false positives at the expense of increasing false negatives. Recently, we developed a method for quantitative traits that estimates the variation accounted for when fitting all SNPs simultaneously. Here we develop this method further for case-control studies. We use a linear mixed model for analysis of binary traits and transform the estimates to a liability scale by adjusting both for scale and for ascertainment of the case samples. We show by theory and simulation that the method is unbiased. We apply the method to data from the Wellcome Trust Case Control Consortium and show that a substantial proportion of variation in liability for Crohn disease, bipolar disorder, and type I diabetes is tagged by common SNPs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.