ReviewTrends in genetics : TIG2015
Strategies for Imputing and Analyzing Rare Variants in Association Studies.
Review in Trends in genetics : TIG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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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
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- False positive findings during genome-wide association studies with imputation: influence of allele frequency and imputation accuracy.Human molecular genetics · 2021Pooled it
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- SimGBS: a rapid method for simulating large-scale genotyping-by-sequencing data.BMC bioinformatics · 2025Article
- Fast and accurate Bayesian polygenic risk modeling with variational inference.American journal of human genetics · 2023Article
- Seascape genomics reveals candidate molecular targets of heat stress adaptation in three coral species.Molecular ecology · 2021Article
- Impact of pre- and post-variant filtration strategies on imputation.Scientific reports · 2021Article
- GEN2VCF: a converter for human genome imputation output format to VCF format.Genes & genomics · 2020Article
- Overcoming the challenges of imputation of rare variants in a Taiwanese cohort.Translational cancer research · 2020Article
- Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.Scientific reports · 2019Article
- Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.PLoS genetics · 2019Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- A role for genes in the 'caregiver stress process'?Translational psychiatry · 2018Article
- Precision medicine in diabetes prevention, classification and management.Journal of diabetes investigation · 2018Review
- High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.Human genetics · 2018Article
- Diagnostic approaches for inherited hemolytic anemia in the genetic era.Blood research · 2017Review
- Article
- Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.Human molecular genetics · 2016Article
- Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.British journal of cancer · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Rare genetic variants may be responsible for a significant amount of the uncharacterized genetic risk underlying many diseases. An efficient approach to characterizing the disease burden of rare variants may be to impute them into existing large datasets. It is well known that the ability to impute a rare variant is dependent both on the array choice and number of individuals in the reference panel carrying that variant, although it is still unclear exactly how well imputation will work for rare variants. Here, we review the additional challenges that arise when imputing rare variants, looking at studies that have been able to impute rare variants, methods behind merging reference panels, approaches for imputing rare variants, and methods for analyzing rare variants.
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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.