ArticleNature genetics2020
Liability threshold modeling of case-control status and family history of disease increases association power.
Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 2 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.Nature communications · 2025Pooled it
- Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.Nature genetics · 2023Pooled it
- Predicting the geographical distribution of drug use disorder in Sweden from the geographical variation in social deprivation, genetic risk and urbanization.Molecular psychiatry · 2026Article
- LT-FGRS: a unifying R-package for the estimation of family-based genetic liabilities at population-scale.bioRxiv : the preprint server for biology · 2026Article
- DOMAIN-AWARE MATRIX COMPLETION FOR PHENOTYPE IMPUTATION USING ELECTRONIC HEALTH RECORD DATA WITH APPLICATIONS IN GENOMIC RESEARCH.The annals of applied statistics · 2026Article
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- A novel method for across-chromosome phasing without relative data.Bioinformatics (Oxford, England) · 2026Article
- The relationship in women between genetic liability and the risk of onset of alcohol use disorder while pregnant or rearing an infant, toddler, or preschool child.Molecular psychiatry · 2026Article
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.NPJ genomic medicine · 2026Article
- Flexible read-aware genotype imputation from sequence using biobank sized reference panels.Nature communications · 2025Article
- Exposure accumulation drives age-dependent disease architectures and polygenic risk scores.medRxiv : the preprint server for health sciences · 2025Article
- Distinguishing specific from broad genetic associations between external correlates and common factors.Bioinformatics (Oxford, England) · 2025Article
- Liability threshold model-based disease risk prediction based on electronic health record phenotypes.Nature genetics · 2025Article
- Pleiotropy in Multitrait Genome-Wide Association Studies: Approaches and Insights From Schizophrenia-Cognition Analyses.Biological psychiatry · 2025Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Exploring the implications of case selection methods for psychiatric molecular genetic studies.Molecular psychiatry · 2025Article
- Genetic analyses of eight complex diseases using predicted continuous representations of disease.Cell reports methods · 2025Article
- The moderation of genetic risk for ten major psychiatric and substance use disorders by the genetic aptitude for educational attainment.Molecular psychiatry · 2025Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Family history of disease can provide valuable information in case-control association studies, but it is currently unclear how to best combine case-control status and family history of disease. We developed an association method based on posterior mean genetic liabilities under a liability threshold model, conditional on case-control status and family history (LT-FH). Analyzing 12 diseases from the UK Biobank (average N = 350,000) we compared LT-FH to genome-wide association without using family history (GWAS) and a previous proxy-based method incorporating family history (GWAX). LT-FH was 63% (standard error (s.e.) 6%) more powerful than GWAS and 36% (s.e. 4%) more powerful than the trait-specific maximum of GWAS and GWAX, based on the number of independent genome-wide-significant loci across all diseases (for example, 690 loci for LT-FH versus 423 for GWAS); relative improvements were similar when applying BOLT-LMM to GWAS, GWAX and LT-FH phenotypes. Thus, LT-FH greatly increases association power when family history of disease is available.
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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.