SynthesisGenetic epidemiology2015
Methods for association analysis and meta-analysis of rare variants in families.
Synthesis in Genetic epidemiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- radioGWAS links radiome to genome to discover driver genes with somatic mutations for heterogeneous tumor image phenotype in pancreatic cancer.Scientific reports · 2024Article
- The HUNT study: A population-based cohort for genetic research.Cell genomics · 2022Article
- Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis.PLoS genetics · 2020Article
- Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.American journal of human genetics · 2019Article
- Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- The impact of rare and low-frequency genetic variants in common disease.Genome biology · 2017Review
- 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
- Whole exome association of rare deletions in multiplex oral cleft families.Genetic epidemiology · 2017Article
- Beyond Rare-Variant Association Testing: Pinpointing Rare Causal Variants in Case-Control Sequencing Study.Scientific reports · 2016Article
- How the effects of aging and stresses of life are integrated in mortality rates: insights for genetic studies of human health and longevity.Biogerontology · 2016Review
- The Norwegian preeclampsia family cohort study: a new resource for investigating genetic aspects and heritability of preeclampsia and related phenotypes.BMC pregnancy and childbirth · 2015Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 4 countries.
Funding
Abstract
Advances in exome sequencing and the development of exome genotyping arrays are enabling explorations of association between rare coding variants and complex traits. To ensure power for these rare variant analyses, a variety of association tests that group variants by gene or functional unit have been proposed. Here, we extend these tests to family-based studies. We develop family-based burden tests, variable frequency threshold tests and sequence kernel association tests. Through simulations, we compare the performance of different tests. We describe situations where family-based studies provide greater power than studies of unrelated individuals to detect rare variants associated with moderate to large changes in trait values. Broadly speaking, we find that when sample sizes are limited and only a modest fraction of all trait-associated variants can be identified, family samples are more powerful. Finally, we illustrate our approach by analyzing the relationship between coding variants and levels of high-density lipoprotein (HDL) cholesterol in 11,556 individuals from the HUNT and SardiNIA studies, demonstrating association for coding variants in the APOC3, CETP, LIPC, LIPG, and LPL genes and illustrating the value of family samples, meta-analysis, and gene-level tests. Our methods are implemented in freely available C++ code.
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Registered trials
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.