ArticleEuropean journal of human genetics : EJHG2013
Family-based association tests for sequence data, and comparisons with population-based association tests.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Methods for association analysis and meta-analysis of rare variants in families.Genetic epidemiology · 2015Pooled it
- A generalized test of genotype-phenotype causality in population-sampled nuclear families.PLoS genetics · 2026Article
- Archipelago Method for Variant Set Association Test Statistics.Genetic epidemiology · 2026Article
- The sequence kernel association test for the proportional odds model.Bioinformatics (Oxford, England) · 2025Article
- Gene-based association tests in family samples using GWAS summary statistics.Genetic epidemiology · 2024Article
- Simultaneous selection of multiple important single nucleotide polymorphisms in familial genome wide association studies data.Scientific reports · 2023Article
- FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.Human molecular genetics · 2023Article
- Article
- Recent advances and challenges of rare variant association analysis in the biobank sequencing era.Frontiers in genetics · 2022Review
- A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests.Bioinformatics (Oxford, England) · 2021Article
- Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration.Journal of the American Statistical Association · 2021Article
- 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.Genes · 2020Review
- Case-Parent Trio Studies in Cleft Lip and Palate.Global medical genetics · 2020Review
- Gene-Based Association Mapping for Dental Caries in The GENEVA Consortium.Journal of dentistry and dental medicine · 2020Article
- The role of genomics and genetics in pulmonary arterial hypertension.Global cardiology science & practice · 2020Review
- PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.Birth defects research · 2020Article
- 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
- Detecting Rare Mutations with Heterogeneous Effects Using a Family-Based Genetic Random Field Method.Genetics · 2018Article
- Powerful and robust cross-phenotype association test for case-parent trios.Genetic epidemiology · 2018Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors.
Funding
Abstract
Recent advances in high-throughput sequencing technologies make it increasingly more efficient to sequence large cohorts for many complex traits. We discuss here a class of sequence-based association tests for family-based designs that corresponds naturally to previously proposed population-based tests, including the classical Burden and variance-component tests. This framework allows for a direct comparison between the powers of sequence-based association tests with family- vs population-based designs. We show that for dichotomous traits using family-based controls results in similar power levels as the population-based design (although at an increased sequencing cost for the family-based design), while for continuous traits (in random samples, no ascertainment) the population-based design can be substantially more powerful. A possible disadvantage of population-based designs is that they can lead to increased false-positive rates in the presence of population stratification, while the family-based designs are robust to population stratification. We show also an application to a small exome-sequencing family-based study on autism spectrum disorders. The tests are implemented in publicly available software.
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