ReviewNature reviews. Genetics2010
Statistical analysis strategies for association studies involving rare variants.
Review in Nature reviews. Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 280 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
280 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Adapting PRISMA Guidelines to Enhance Reporting Quality in Genetic Association Studies: A Framework Proposal.Asian Pacific journal of cancer prevention : APJCP · 2025Pooled it
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models.European journal of human genetics : EJHG · 2017Pooled it
- Resequencing Epithelial Sodium Channel Genes Identifies Rare Variants Associated With Blood Pressure Salt-Sensitivity: The GenSalt Study.American journal of hypertension · 2018Trial
- Determination of genotype combinations that can predict the outcome of the treatment of alcohol dependence using the 5-HT(3) antagonist ondansetron.The American journal of psychiatry · 2013Trial
- Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.PloS one · 2013Trial
- Genome-Wide Homozygosity Predicts Inbreeding Depression in the Hihi/Stitchbird (Evolutionary applications · 2026Article
- Scalable and accurate rare-variant association tests for whole genome sequencing time-to-event analysis in large biobanks.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.Nature methods · 2026Article
- Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.Diagnostics (Basel, Switzerland) · 2025Article
- Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes.BMC genomics · 2024Article
- Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control.Biometrical journal. Biometrische Zeitschrift · 2024Article
- Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- DYNATE: Localizing rare-variant association regions via multiple testing embedded in an aggregation tree.Genetic epidemiology · 2024Article
- Article
- A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).Scientific reports · 2023Article
- Relationship between the TGFBR1 Gene and Molar Incisor Hypomineralization.Journal of personalized medicine · 2023Article
- Common and rare variant associations with latent traits underlying depression, bipolar disorder, and schizophrenia.Translational psychiatry · 2023Article
- A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.Nature methods · 2022Article
- Genetic and functional analyses implicate microRNA 499A in bipolar disorder development.Translational psychiatry · 2022Article
220 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
The limitations of genome-wide association (GWA) studies that focus on the phenotypic influence of common genetic variants have motivated human geneticists to consider the contribution of rare variants to phenotypic expression. The increasing availability of high-throughput sequencing technologies has enabled studies of rare variants but these methods will not be sufficient for their success as appropriate analytical methods are also needed. We consider data analysis approaches to testing associations between a phenotype and collections of rare variants in a defined genomic region or set of regions. Ultimately, although a wide variety of analytical approaches exist, more work is needed to refine them and determine their properties and power in different contexts.
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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.