ReviewHuman genetics2016
Discovery of rare variants for complex phenotypes.
Review in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis 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
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Protocol for identifying genetic modifiers of phenotypes in individuals with disease-associated variants.STAR protocols · 2026Article
- Beyond Single Variants: A Pathway-Based Approach to Explore the Genetic Basis of Memory.Molecular neurobiology · 2026Article
- Leveraging functional annotations to map rare variants associated with Alzheimer disease with gruyere.American journal of human genetics · 2025Article
- The Role ofmedRxiv : the preprint server for health sciences · 2025Article
- Systematic data analysis pipeline for quantitative morphological cell phenotyping.Computational and structural biotechnology journal · 2024Review
- Trait-customized sampling of core collections from a winter wheat genebank collection supports association studies.Frontiers in plant science · 2024Article
- An allelic-series rare-variant association test for candidate-gene discovery.American journal of human genetics · 2023Article
- Association of rareAnnals of translational medicine · 2022Article
- Rare protein-coding variants implicate genes involved in risk of suicide death.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2021Article
- Article
- Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases.International journal of molecular sciences · 2021Review
- Genetic Epidemiology of Complex Phenotypes.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Rare variant association testing in the non-coding genome.Human genetics · 2020Review
- Genetics of extreme human longevity to guide drug discovery for healthy ageing.Nature metabolism · 2020Review
- Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.Cell reports · 2020Article
- Translational Genomics in Neurocritical Care: a Review.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
- Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.Translational psychiatry · 2020Article
- Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis.Frontiers in neuroscience · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
With the rise of sequencing technologies, it is now feasible to assess the role rare variants play in the genetic contribution to complex trait variation. While some of the earlier targeted sequencing studies successfully identified rare variants of large effect, unbiased gene discovery using exome sequencing has experienced limited success for complex traits. Nevertheless, rare variant association studies have demonstrated that rare variants do contribute to phenotypic variability, but sample sizes will likely have to be even larger than those of common variant association studies to be powered for the detection of genes and loci. Large-scale sequencing efforts of tens of thousands of individuals, such as the UK10K Project and aggregation efforts such as the Exome Aggregation Consortium, have made great strides in advancing our knowledge of the landscape of rare variation, but there remain many considerations when studying rare variation in the context of complex traits. We discuss these considerations in this review, presenting a broad range of topics at a high level as an introduction to rare variant analysis in complex traits including the issues of power, study design, sample ascertainment, de novo variation, and statistical testing approaches. Ultimately, as sequencing costs continue to decline, larger sequencing studies will yield clearer insights into the biological consequence of rare mutations and may reveal which genes play a role in the etiology of complex traits.
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What OpenQuestion holds
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.