ArticleNature communications2018
A reference haplotype panel for genome-wide imputation of short tandem repeats.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 3 of them syntheses that pooled it.
What it found
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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
53 citing papers in PubMed, 3 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.Brain : a journal of neurology · 2023Pooled it
- HMOX1 STR polymorphism and malaria: an analysis of a large clinical dataset.Malaria journal · 2022Pooled it
- Pooled it
- Toward minimal SNP sets for record-matching with CODIS STR profiles.European journal of human genetics : EJHG · 2026Article
- GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease.Nature communications · 2026Article
- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- Detection of short tandem repeats in the cattle genome: a comparison of bioinformatic tools.BMC genomics · 2026Article
- Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.Genome research · 2026Article
- Short tandem repeats significantly contribute to the genetic architecture of metabolic and sensory age-related hearing loss phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Advances in haplotype phasing and genotype imputation.Nature reviews. Genetics · 2026Review
- Huntington disease: somatic expansion, pathobiology and therapeutics.Nature reviews. Neurology · 2026Review
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.NAR genomics and bioinformatics · 2025Article
- Do forensic genetic markers disclose more information about us than they should? (A review).International journal of legal medicine · 2025Review
- Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.bioRxiv : the preprint server for biology · 2025Article
- DPImpute: A Genotype Imputation Framework for Ultra-Low Coverage Whole-Genome Sequencing and its Application in Genomic Selection.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Analysis and benchmarking of small and large genomic variants across tandem repeats.Nature biotechnology · 2025Article
- A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.Nature communications · 2024Article
- Sequencing and characterizing short tandem repeats in the human genome.Nature reviews. Genetics · 2024Review
- Phenotypic Associations With the HMOX1 GT(n) Repeat in European Populations.American journal of epidemiology · 2024Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated in complex traits. However, genotyping arrays used in genome-wide association studies focus on single nucleotide polymorphisms (SNPs) and do not readily allow identification of STR associations. We leverage next-generation sequencing (NGS) from 479 families to create a SNP + STR reference haplotype panel. Our panel enables imputing STR genotypes into SNP array data when NGS is not available for directly genotyping STRs. Imputed genotypes achieve mean concordance of 97% with observed genotypes in an external dataset compared to 71% expected under a naive model. Performance varies widely across STRs, with near perfect concordance at bi-allelic STRs vs. 70% at highly polymorphic repeats. Imputation increases power over individual SNPs to detect STR associations with gene expression. Imputing STRs into existing SNP datasets will enable the first large-scale STR association studies across a range 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.