ArticleNature genetics2017
Interpreting short tandem repeat variations in humans using mutational constraint.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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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.
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Who cites it
49 citing papers in PubMed, 109 citations in OpenAlex.
- Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.bioRxiv : the preprint server for biology · 2026Article
- Tandem repeat variation within and between species reveals signatures of selection in humans and chimpanzees.bioRxiv : the preprint server for biology · 2026Article
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- Genome-wide selection inference at short tandem repeats.PLoS genetics · 2025Article
- Accurate detection of tandem repeats exposes ubiquitous reuse of biological sequences.Nucleic acids research · 2025Article
- Genetic diversity and forensic profiling: analysis of 20 CODIS STR Loci in the population of West Bengal, India.International journal of legal medicine · 2025Article
- ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.International journal of molecular sciences · 2025Article
- Microsatellite density landscapes illustrate short tandem repeats aggregation in the complete reference human genome.BMC genomics · 2024Article
- Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.BMC medical genomics · 2024Article
- High-fidelity, large-scale targeted profiling of microsatellites.Genome research · 2024Article
- Sequencing and characterizing short tandem repeats in the human genome.Nature reviews. Genetics · 2024Review
- Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.Psychiatry and clinical neurosciences · 2024Article
- Forensic efficiency and population genetic construction of Guizhou Gelao minority from Southwest China revealed by a panel of 23 autosomal STR loci.Forensic sciences research · 2024Article
- Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.Genetics · 2024Article
- RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.Genome biology · 2024Article
- Repetitive DNA sequence detection and its role in the human genome.Communications biology · 2023Review
- The sequence of the repetitive motif influences the frequency of multistep mutations in Short Tandem Repeats.Scientific reports · 2023Article
- Insights from a genome-wide truth set of tandem repeat variation.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Identifying regions of the genome that are depleted of mutations can distinguish potentially deleterious variants. Short tandem repeats (STRs), also known as microsatellites, are among the largest contributors of de novo mutations in humans. However, per-locus studies of STR mutations have been limited to highly ascertained panels of several dozen loci. Here we harnessed bioinformatics tools and a novel analytical framework to estimate mutation parameters for each STR in the human genome by correlating STR genotypes with local sequence heterozygosity. We applied our method to obtain robust estimates of the impact of local sequence features on mutation parameters and used these estimates to create a framework for measuring constraint at STRs by comparing observed versus expected mutation rates. Constraint scores identified known pathogenic variants with early-onset effects. Our metric will provide a valuable tool for prioritizing pathogenic STRs in medical genetics 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.