ArticleScientific data2020
Large scale in silico characterization of repeat expansion variation in human genomes.
Article in Scientific data, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.The Journal of molecular diagnostics : JMD · 2025Article
- Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.NPJ genomic medicine · 2025Article
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 2025Article
- Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.Nature communications · 2025Article
- Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.Nucleic acids research · 2025Article
- Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.European journal of human genetics : EJHG · 2024Review
- RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.Genome biology · 2024Article
- Genome-Wide Tool for Sensitive de novo Identification and Visualisation of Interspersed and Tandem Repeats.Bioinformatics and biology insights · 2024Article
- Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.Emerging topics in life sciences · 2023Review
- Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease.medRxiv : the preprint server for health sciences · 2023Article
- A deep population reference panel of tandem repeat variation.Nature communications · 2023Article
- Characterization of genome-wide STR variation in 6487 human genomes.Nature communications · 2023Article
- A deep population reference panel of tandem repeat variation.bioRxiv : the preprint server for biology · 2023Article
- Deep IntronicThe New England journal of medicine · 2023Article
- The mutational dynamics of short tandem repeats in large, multigenerational families.Genome biology · 2022Article
- The Simple Biology of Flipons and Condensates Enhances the Evolution of Complexity.Molecules (Basel, Switzerland) · 2021Review
- Large scale in silico characterization of repeat expansion variation in human genomes.Scientific data · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Significant progress has been made in elucidating single nucleotide polymorphism diversity in the human population. However, the majority of the variation space in the genome is structural and remains partially elusive. One form of structural variation is tandem repeats (TRs). Expansion of TRs are responsible for over 40 diseases, but we hypothesize these represent only a fraction of the pathogenic repeat expansions that exist. Here we characterize long or expanded TR variation in 1,115 human genomes as well as a replication cohort of 2,504 genomes, identified using ExpansionHunter Denovo. We found that individual genomes typically harbor several rare, large TRs, generally in non-coding regions of the genome. We noticed that these large TRs are enriched in their proximity to Alu elements. The vast majority of these large TRs seem to be expansions of smaller TRs that are already present in the reference genome. We are providing this TR profile as a resource for comparison to undiagnosed rare disease genomes in order to detect novel disease-causing repeat expansions.
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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.