ArticleAmerican journal of human genetics2015
A statistical approach for rare-variant association testing in affected sibships.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- The KLF14 Variant is Associated with Type 2 Diabetes and HbABiochemical genetics · 2021Trial
- Marginal interaction test for detecting interactions between genetic marker sets and environment in genome-wide studies.G3 (Bethesda, Md.) · 2025Article
- Gene-based and pathway-based testing for rare-variant association in affected sib pairs.Genetic epidemiology · 2020Article
- Article
- A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.American journal of human genetics · 2019Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.European journal of human genetics : EJHG · 2019Article
- On the Null Distribution of Bayes Factors in Linear Regression.Journal of the American Statistical Association · 2018Article
- Genome-Wide Gene-Environment Interaction Analysis Using Set-Based Association Tests.Frontiers in genetics · 2018Article
- Associations of Nocturnal Blood Pressure With Cognition by Self-Identified Race in Middle-Aged and Older Adults: The GENOA (Genetic Epidemiology Network of Arteriopathy) Study.Journal of the American Heart Association · 2017Article
- Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants.Scientific reports · 2017Article
- Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.PLoS genetics · 2017Article
- The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.American journal of human genetics · 2017Article
- Whole exome association of rare deletions in multiplex oral cleft families.Genetic epidemiology · 2017Article
- Whole exome analyses to examine the impact of rare variants on left ventricular traits in African American participants from the HyperGEN and GENOA studies.Journal of hypertension and management · 2017Article
- Progress in methods for rare variant association.BMC genetics · 2016Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Sequencing and exome-chip technologies have motivated development of novel statistical tests to identify rare genetic variation that influences complex diseases. Although many rare-variant association tests exist for case-control or cross-sectional studies, far fewer methods exist for testing association in families. This is unfortunate, because cosegregation of rare variation and disease status in families can amplify association signals for rare variants. Many researchers have begun sequencing (or genotyping via exome chips) familial samples that were either recently collected or previously collected for linkage studies. Because many linkage studies of complex diseases sampled affected sibships, we propose a strategy for association testing of rare variants for use in this study design. The logic behind our approach is that rare susceptibility variants should be found more often on regions shared identical by descent by affected sibling pairs than on regions not shared identical by descent. We propose both burden and variance-component tests of rare variation that are applicable to affected sibships of arbitrary size and that do not require genotype information from unaffected siblings or independent controls. Our approaches are robust to population stratification and produce analytic p values, thereby enabling our approach to scale easily to genome-wide studies of rare variation. We illustrate our methods by using simulated data and exome chip data from sibships ascertained for hypertension collected as part of the Genetic Epidemiology Network of Arteriopathy (GENOA) study.
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