Estimating Missing Heritability for Disease from Genome-wide Association Studies

2011/03/01 by Sang Hong Lee, Sang Lee, Naomi R. Wray +5 · 1,175 citations
Biochemistry, Genetics and Molecular Biology · Mathematics · Medicine · Psychology · #Association (psychology) #Biology #Disease #Gene #Genetic Associations and Epidemiology #Genetic and phenotypic traits in livestock #Genetic association #Genetics #Genome-wide association study #Genotype #Heritability #Internal medicine #Liver Disease Diagnosis and Treatment #Mathematics #Medicine #Missing data #Missing heritability problem #Psychology #Single-nucleotide polymorphism #Statistics

paper · pdf · doi:10.1016/j.ajhg.2011.02.002

published in The American Journal of Human Genetics 88(3), 294-305 (Elsevier BV)

openalex publication_date 2011/03/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Citations

• GCTA: A Tool for Genome-wide Complex Trait Analysis

Cited by

• The association of sex, age and FKBP5 genotype with common somatic symptoms: A replication study in the lifelines cohort study
• Three legs of the missing heritability problem
• Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses
• Polygenic scores for dizygotic twinning: insights into the genetic architecture of female fertility
• Genetic analysis of probable sleep bruxism and its associations with clinical and behavioral traits
• The genetics of asthma and allergic disease: a 21st century perspective
• Genome-wide association studies
• Tutorial: a guide to performing polygenic risk score analyses
• The Convergence of eQTL Mapping, Heritability Estimation and Polygenic Modeling: Emerging Spectrum of Risk Variation in Bipolar Disorder
• Increasing the Discovery Power and Confidence Levels of Disease Association Studies: A Survey
• Gene and Gene-Set Analysis for Genome-Wide Association Studies
• GPA: A statistical approach to prioritizing GWAS results by integrating pleiotropy information and annotation data
• Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits
• Genetic Basis of Complex Genetic Disease: The Contribution of Disease Heterogeneity to Missing Heritability
• Benchmarking Heritability Estimation Strategies Across 86 Configurations and Their Downstream Effect on Polygenic Risk Score Performance
• Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
• Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
• Genetics of bipolar disorder
• Identification of Pathways for Bipolar Disorder
• Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
• Common DNA Markers Can Account for More Than Half of the Genetic Influence on Cognitive Abilities
• Research Review: Polygenic methods and their application to psychiatric traits
• Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
• The genetics of asthma and allergic disease: a 21st century perspective. [europepmc]
• Genome-wide association study identifies five new schizophrenia loci. [europepmc]
• Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. [europepmc]
• Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. [europepmc]
• Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. [europepmc]
• Pitfalls of predicting complex traits from SNPs. [europepmc]
• Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. [europepmc]
• Advantages and pitfalls in the application of mixed-model association methods. [europepmc]
• Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. [europepmc]
• MAGMA: generalized gene-set analysis of GWAS data. [europepmc]
• Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. [europepmc]
• Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis. [europepmc]
• A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. [europepmc]
• Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. [europepmc]
• Systematic identification of genetic influences on methylation across the human life course. [europepmc]
• Developing and evaluating polygenic risk prediction models for stratified disease prevention. [europepmc]
• LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. [europepmc]
• Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. [europepmc]
• Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. [europepmc]
• Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. [europepmc]
• Identification of common genetic risk variants for autism spectrum disorder. [europepmc]
• Polygenic prediction via Bayesian regression and continuous shrinkage priors. [europepmc]
• International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. [europepmc]
• Improved polygenic prediction by Bayesian multiple regression on summary statistics. [europepmc]
• Tutorial: a guide to performing polygenic risk score analyses. [europepmc]