ArticleNature genetics2021
Efficient phasing and imputation of low-coverage sequencing data using large reference panels.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 270 papers, 2 of them syntheses 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.
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Who cites it
270 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A large meta-analysis identifies genes associated with anterior uveitis.Nature communications · 2023Pooled it
- GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.Nature genetics · 2023Pooled it
- Population genomics, demography, and circum-Baltic connectivity of Early Medieval southwestern Finland.Genome biology · 2026Article
- Spatial Logic and Evolutionary Innovation in Human Placentation.bioRxiv : the preprint server for biology · 2026Article
- Low-pass whole-genome sequencing reveals genomic diversity and ecotype-specific adaptation in indigenous Tigrayan chickens.Scientific reports · 2026Article
- Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.Nature communications · 2026Article
- Local ancestry inference identifies robust evidence of selection in Neolithic Europe.Molecular biology and evolution · 2026Article
- Quantifying the Evolutionary Potential for Delta Smelt Persistence in a Warming Habitat.Evolutionary applications · 2026Article
- Omitting post-alignment processing and merging batch-based imputation: an efficient workflow for NIPT data imputation and its application in maternal folate metabolism genotyping.Journal of human genetics · 2026Article
- Low-Coverage Whole-Genome Resequencing in Livestock and Poultry: Statistical Foundations, Applications and Future Directions.Biology · 2026Review
- Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.Human genetics · 2026Article
- Archaic ancestry inference in imputed ancient human genomes.Nature communications · 2026Article
- Genome-wide association analyses of gestational phenotypes identify context-specific genetic effects.Nature genetics · 2026Article
- A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.Nature genetics · 2026Article
- Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.Clinical pharmacology and therapeutics · 2026Article
- Multi-Omics Integration Identifies ABCD4 as a Key Regulator of Backfat Thickness and Lipid Deposition in Pietrain Pigs.Animal genetics · 2026Article
- Integrative Multi-Omics Analysis Reveals the Genetic Architecture Landscape of the Blood Metabolome in Jersey Cattle.Animals : an open access journal from MDPI · 2026Article
- Ancestry, admixture, and pathogens in contemporaneous Neolithic farmers and foragers on the Island of Gotland.Communications biology · 2026Article
- Equal in death: Ancient genomic analysis of children's early Christian burials.Science advances · 2026Article
- Ancient DNA reveals elite dynastic rule among Iron Age Eurasian Steppe nomads.Science advances · 2026Article
210 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
Abstract
Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large reference panels. Here, we describe a method, GLIMPSE, for phasing and imputation of low-coverage sequencing datasets from modern reference panels. We demonstrate its remarkable performance across different coverages and human populations. GLIMPSE achieves imputation of a genome for less than US$1 in computational cost, considerably outperforming other methods and improving imputation accuracy over the full allele frequency range. As a proof of concept, we show that 1× coverage enables effective gene expression association studies and outperforms dense SNP arrays in rare variant burden tests. Overall, this study illustrates the promising potential of low-coverage imputation and suggests a paradigm shift in the design of future genomic studies.
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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.