ArticleAnnals of human genetics2014
Utilising family-based designs for detecting rare variant disease associations.
Article in Annals of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Detecting disease association with rare variants using weighted entropy.Journal of genetics · 2023Article
- Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.Neurology. Genetics · 2018Article
- Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.Annals of clinical and translational neurology · 2018Article
- Rare variant association analysis in case-parents studies by allowing for missing parental genotypes.BMC genetics · 2018Article
- An adaptive strategy for association analysis of common or rare variants using entropy theory.Journal of human genetics · 2017Article
- Detecting disease association with rare variants in case-parents studies.Journal of human genetics · 2017Article
- Detecting multiple variants associated with disease based on sequencing data of case-parent trios.Journal of human genetics · 2016Article
- Flexible and robust methods for rare-variant testing of quantitative traits in trios and nuclear families.Genetic epidemiology · 2014Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Rare genetic variants are thought to be important components in the causality of many diseases but discovering these associations is challenging. We demonstrate how best to use family-based designs to improve the power to detect rare variant disease associations. We show that using genetic data from enriched families (those pedigrees with greater than one affected member) increases the power and sensitivity of existing case-control rare variant tests. However, we show that transmission- (or within-family-) based tests do not benefit from this enrichment. This means that, in studies where a limited amount of genotyping is available, choosing a single case from each of many pedigrees has greater power than selecting multiple cases from fewer pedigrees. Finally, we show how a pseudo-case-control design allows a greater range of statistical tests to be applied to family data.
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Registered trials
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