ReviewGenetic epidemiology2011
Statistical analysis of rare sequence variants: an overview of collapsing methods.
Review in Genetic epidemiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 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.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
117 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
- 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
- Ancient Yellow River ancestry and divergent admixture histories in the Qiang people.Science advances · 2026Article
- A New Method for Conditional Gene-Based Analysis Effectively Accounts for the Regional Polygenic Background.Genes · 2024Article
- Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control.Biometrical journal. Biometrische Zeitschrift · 2024Article
- Genetic Factors and Long-term Treatment-Related Neurocognitive Deficits, Anxiety, and Depression in Childhood Leukemia Survivors: An Exome-Wide Association Study.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024Article
- Real and Deepfake Face Recognition: An EEG Study on Cognitive and Emotive Implications.Brain sciences · 2023Article
- Integration of DNA sequencing with population pharmacokinetics to improve the prediction of irinotecan exposure in cancer patients.British journal of cancer · 2022Article
- VCSEL: PRIORITIZING SNP-SET BY PENALIZED VARIANCE COMPONENT SELECTION.The annals of applied statistics · 2021Article
- Genetic factors in treatment-related cardiovascular complications in survivors of childhood acute lymphoblastic leukemia.Pharmacogenomics · 2021Article
- Comparison of haplotype-based tests for detecting gene-environment interactions with rare variants.Briefings in bioinformatics · 2020Review
- Exploiting Homoplasy in Genome-Wide Association Studies to Enhance Identification of Antibiotic-Resistance Mutations in Bacterial Genomes.Evolutionary bioinformatics online · 2020Article
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- Semen quality is affected by HLA class I alleles together with sexually transmitted diseases.Andrology · 2019Article
- Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic loci.Journal of human genetics · 2019Article
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- A Family-Based Rare Haplotype Association Method for Quantitative Traits.Human heredity · 2018Article
- Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease.Scientific reports · 2017Article
57 more citing papers are in PubMed but not listed here.
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 advent of novel sequencing technologies, interest in the identification of rare variants that influence common traits has increased rapidly. Standard statistical methods, such as the Cochrane-Armitage trend test or logistic regression, fail in this setting for the analysis of unrelated subjects because of the rareness of the variants. Recently, various alternative approaches have been proposed that circumvent the rareness problem by collapsing rare variants in a defined genetic region or sets of regions. We provide an overview of these collapsing methods for association analysis and discuss the use of permutation approaches for significance testing of the data-adaptive methods.
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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.