ReviewCurrent protocols in human genetics2013
Identifying rare variants associated with complex traits via sequencing.
Review in Current protocols in human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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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
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits.Current protocols in human genetics · 2019Pooled it
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- Do common dopaminergic variants modulate processing speed in cognitive aging? A longitudinal candidate gene study.PloS one · 2026Article
- A scalable framework for identifying allelic series from summary statistics.American journal of human genetics · 2025Article
- Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.HGG advances · 2023Article
- TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8.HGG advances · 2022Article
- Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus.Journal of medical genetics · 2021Review
- Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.Pharmacogenomics and personalized medicine · 2021Article
- Article
- VMAT2 gene (Pharmacogenomics · 2019Article
- Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deep sequencing.ERJ open research · 2019Article
- Association ofInternational journal of hypertension · 2019Article
- Mathematical Properties of Linkage Disequilibrium Statistics Defined by Normalization of the Coefficient D = pAB - pApB.Human heredity · 2019Article
- Exome-wide rare variant analyses of two bone mineral density phenotypes: the challenges of analyzing rare genetic variation.Scientific reports · 2018Article
- Family studies to find rare high risk variants in migraine.The journal of headache and pain · 2017Review
- To aggregate or not, that is the question. A commentary on single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data.Journal of human genetics · 2017Article
- DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.PloS one · 2017Article
- Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.Expert review of clinical immunology · 2016Review
- Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans.Molecular genetics & genomic medicine · 2016Article
- Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.Human genetics · 2016Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Although genome-wide association studies have been successful in detecting associations with common variants, there is currently an increasing interest in identifying low-frequency and rare variants associated with complex traits. Next-generation sequencing technologies make it feasible to survey the full spectrum of genetic variation in coding regions or the entire genome. The association analysis for rare variants is challenging, and traditional methods are ineffective, however, due to the low frequency of rare variants, coupled with allelic heterogeneity. Recently a battery of new statistical methods has been proposed for identifying rare variants associated with complex traits. These methods test for associations by aggregating multiple rare variants across a gene or a genomic region or among a group of variants in the genome. In this unit, we describe key concepts for rare variant association for complex traits, survey some of the recent methods, discuss their statistical power under various scenarios, and provide practical guidance on analyzing next-generation sequencing data for identifying rare variants associated with complex traits.
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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.