Rare‐variant association tests in longitudinal studies, with an application to the Multi‐Ethnic Study of Atherosclerosis (MESA)
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22081
Abstract: Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, gene‐based association tests have been proposed to… read more here.
Keywords: longitudinal studies; study; association; association tests ... See more keywords
Rare variant association testing for multicategory phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22210
Abstract: Genetic association studies have provided new insights into the genetic variability of human complex traits with a focus mainly on continuous or binary traits. Methods have been proposed to take into account disease heterogeneity between… read more here.
Keywords: association testing; association; burden tests; rare variants ... See more keywords
RAVAQ: An integrative pipeline from quality control to region-based rare variant association analysis.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic epidemiology"
DOI: 10.1002/gepi.22450
Abstract: Next-generation sequencing technologies have opened up the possibility to sequence large samples of cases and controls to test for association with rare variants. To limit cost and increase sample sizes, data from controls could be… read more here.
Keywords: variant association; quality; rare variant; quality control ... See more keywords
The exhaustive genomic scan approach, with an application to rare-variant association analysis
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0639-3
Abstract: Region-based genome-wide scans are usually performed by use of a priori chosen analysis regions. Such an approach will likely miss the region comprising the strongest signal and, thus, may result in increased type II error… read more here.
Keywords: variant association; rare variant; analysis; scan approach ... See more keywords
Inflated expectations: Rare-variant association analysis using public controls
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DOI: 10.1371/journal.pone.0280951
Abstract: The use of publicly available sequencing datasets as controls (hereafter, “public controls”) in studies of rare variant disease associations has great promise but can increase the risk of false-positive discovery. The specific factors that could… read more here.
Keywords: positive discovery; public controls; variant association; rare variant ... See more keywords
Recent advances and challenges of rare variant association analysis in the biobank sequencing era
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1014947
Abstract: Causal variants for rare genetic diseases are often rare in the general population. Rare variants may also contribute to common complex traits and can have much larger per-allele effect sizes than common variants, although power… read more here.
Keywords: challenges rare; association analysis; variant association; rare variant ... See more keywords
Leveraging Gene-Level Prediction as Informative Covariate in Hypothesis Weighting Improves Power for Rare Variant Association Studies
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DOI: 10.3390/genes13020381
Abstract: Gene-based rare variant association studies (RVASs) have low power due to the infrequency of rare variants and the large multiple testing burden. To correct for multiple testing, traditional false discovery rate (FDR) procedures which depend… read more here.
Keywords: hypothesis; variant association; rare variant; power ... See more keywords