ArticleNature communications2023
Characterization of genome-wide STR variation in 6487 human genomes.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- A practical guide to identifying associations between tandem repeats and complex human traits using consensus genotypes from multiple tools.Nature protocols · 2026Guideline
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Beyond the Core: The Role of Supplementary Short Tandem Repeats in Forensic Genetics.International journal of molecular sciences · 2026Review
- DNA polymerase characteristics influence noise levels in sequencing of short tandem repeats.BMC genomics · 2026Article
- Quantification of disease-associated RNA tandem repeats by nanopore sensing.Nature communications · 2026Article
- Long-read analysis of tetrameric microsatellites with vmwhere supports GGAA repeat length-dependent chromatin state association in Ewing sarcoma.bioRxiv : the preprint server for biology · 2026Article
- Genetic diversity and differentiated adaptive strategies for underrepresented populations at the crossroad of Southeast and East Asia.BMC genomics · 2026Article
- Computational tools for tandem repeat detection using long-read sequencing.Briefings in bioinformatics · 2026Review
- Database resources of the National Genomics Data Center, China National Center for Bioinformation in 2026.Nucleic acids research · 2026Article
- The repertoire of short tandem repeats across the tree of life.Genome biology · 2025Article
- Evaluate the forensic efficiency parameters of the D13S317 gene in closely related family members in Gondar town, Northwest Ethiopia.Journal, genetic engineering & biotechnology · 2025Article
- Multi-marker GWAS and variant-specific genomic prediction for growth traits in Pacific white shrimp.Scientific reports · 2025Article
- Network construction using sparse Gaussian graphical model based on GWAS summary statistics.Scientific reports · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
- Genotyping short tandem repeats across copy number alterations, aneuploidies, and polyploid organisms.Communications biology · 2025Article
- Chromosome-Level Genome Assembly of the Loach Goby Rhyacichthys aspro Offers Insights Into Gobioidei Evolution.Molecular ecology resources · 2025Article
- Association of human-specific expanded short tandem repeats with neuron-specific regulatory features.Science advances · 2025Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome. Many STR loci have been associated with a range of human genetic disorders. However, most population-scale studies on STR variation in humans have focused on European ancestry cohorts or are limited by sequencing depth. Here, we depicted a comprehensive map of 366,013 polymorphic STRs (pSTRs) constructed from 6487 deeply sequenced genomes, comprising 3983 Chinese samples (~31.5x, NyuWa) and 2504 samples from the 1000 Genomes Project (~33.3x, 1KGP). We found that STR mutations were affected by motif length, chromosome context and epigenetic features. We identified 3273 and 1117 pSTRs whose repeat numbers were associated with gene expression and 3'UTR alternative polyadenylation, respectively. We also implemented population analysis, investigated population differentiated signatures, and genotyped 60 known disease-causing STRs. Overall, this study further extends the scale of STR variation in humans and propels our understanding of the semantics of STRs.
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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 OpenQuestion graph.