ReviewFrontiers in genetics2022
Recent advances and challenges of rare variant association analysis in the biobank sequencing era.
Review in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- A heritability-optimized method for functional prioritization of rare coding variants in complex traits.Nature genetics · 2026Article
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population.Circulation. Genomic and precision medicine · 2026Article
- NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.Cell genomics · 2026Article
- 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
- Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications.HGG advances · 2026Article
- Inclusion bias affects common variant discovery and replication in a health-system linked biobank.American journal of human genetics · 2026Article
- BeyondFrontiers in genetics · 2026Review
- Identification of novel and known variants inFrontiers in cardiovascular medicine · 2026Article
- iRUNNER: A Baseline Mutation Burden Regression for Identifying Gene Interaction Between Rare Variants for Diseases.Genomics, proteomics & bioinformatics · 2025Article
- Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data.Communications biology · 2025Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.American journal of human genetics · 2025Article
- Genome-wide association studies revealed partial genetic links between early vigour and precocity in macadamia.Horticulture research · 2025Article
- AI-powered precision medicine: utilizing genetic risk factor optimization to revolutionize healthcare.NAR genomics and bioinformatics · 2025Review
- Uncovering shared genetic features between inflammatory bowel disease and systemic lupus erythematosus.Scientific reports · 2025Article
- Proxy panels enable privacy-aware outsourcing of genotype imputation.Genome research · 2025Article
- Marginal interaction test for detecting interactions between genetic marker sets and environment in genome-wide studies.G3 (Bethesda, Md.) · 2025Article
- The Regulatory Landscape of Biobanks In Europe: From Accreditation to Intellectual Property.Current genomics · 2025Review
- Germline copy number variants and endometrial cancer risk.Human genetics · 2024Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
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 to detect these associations can be limited. Sequencing costs have steadily declined with technological advancements, making it feasible to adopt whole-exome and whole-genome profiling for large biobank-scale sample sizes. These large amounts of sequencing data provide both opportunities and challenges for rare-variant association analysis. Herein, we review the basic concepts of rare-variant analysis methods, the current state-of-the-art methods in utilizing variant annotations or external controls to improve the statistical power, and particular challenges facing rare variant analysis such as accounting for population structure, extremely unbalanced case-control design. We also review recent advances and challenges in rare variant analysis for familial sequencing data and for more complex phenotypes such as survival data. Finally, we discuss other potential directions for further methodology investigation.
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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 Socratic graph.