ArticleNucleic acids research2014
Large-scale analysis of tandem repeat variability in the human genome.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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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
40 citing papers in PubMed.
- Genome-wide pervasiveness and localized variation of [Formula: see text]-mer-based genomic signatures in eukaryotes.Scientific reports · 2026Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- The evolution of tandem repeat sequences under partial selfing and different modes of selection.Heredity · 2026Article
- A tandem repeat atlas for the genome of inbred mouse strains: A genetic variation resource.iScience · 2025Article
- Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.BMC medical genomics · 2025Article
- A Tandem Repeat Atlas for the Genome of Inbred Mouse Strains: A Genetic Variation Resource.bioRxiv : the preprint server for biology · 2025Article
- Article
- Mononucleotide A-repeats may Play a Regulatory Role in Endothermic Housekeeping Genes.Evolutionary bioinformatics online · 2022Article
- Revisiting tandem repeats in psychiatric disorders from perspectives of genetics, physiology, and brain evolution.Molecular psychiatry · 2022Review
- Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences.Genome biology · 2021Article
- Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.Nature genetics · 2021Article
- Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences.Nucleic acids research · 2021Article
- Article
- Immune activation by a multigene family of lectins with variable tandem repeats in oriental river prawn (Open biology · 2020Article
- Tuning the Cell-Free Protein Synthesis System for Biomanufacturing of Monomeric Human Filaggrin.Frontiers in bioengineering and biotechnology · 2020Article
- Finding and extending ancient simple sequence repeat-derived regions in the human genome.Mobile DNA · 2020Article
- Long-read sequencing in deciphering human genetics to a greater depth.Human genetics · 2019Review
- Repeat length variations in polyglutamine disease-associated genes affect body mass index.International journal of obesity (2005) · 2019Article
- Comparative analysis of the complete chloroplast genome sequences of six species ofChinese medicine · 2019Article
- Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.BMC medical genomics · 2018Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Tandem repeats are short DNA sequences that are repeated head-to-tail with a propensity to be variable. They constitute a significant proportion of the human genome, also occurring within coding and regulatory regions. Variation in these repeats can alter the function and/or expression of genes allowing organisms to swiftly adapt to novel environments. Importantly, some repeat expansions have also been linked to certain neurodegenerative diseases. Therefore, accurate sequencing of tandem repeats could contribute to our understanding of common phenotypic variability and might uncover missing genetic factors in idiopathic clinical conditions. However, despite long-standing evidence for the functional role of repeats, they are largely ignored because of technical limitations in sequencing, mapping and typing. Here, we report on a novel capture technique and data filtering protocol that allowed simultaneous sequencing of thousands of tandem repeats in the human genomes of a three generation family using GS-FLX-plus Titanium technology. Our results demonstrated that up to 7.6% of tandem repeats in this family (4% in coding sequences) differ from the reference sequence, and identified a de novo variation in the family tree. The method opens new routes to look at this underappreciated type of genetic variability, including the identification of novel disease-related repeats.
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