ArticleScientific reports2022
Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- The Tale of the Guanosine Tract in Repeat Expansion Disorders.Molecular neurobiology · 2026Review
- Computational tools for tandem repeat detection using long-read sequencing.Briefings in bioinformatics · 2026Review
- STRaM: A genetic framework for improved cell product provenance for research and clinical translations.Communications biology · 2025Article
- DNA-Barcoding for Cultivar Identification and Intraspecific Diversity Analysis of Agricultural Crops.International journal of molecular sciences · 2025Review
- Novel, complex configurations of theBrain communications · 2025Article
- The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases.The Journal of clinical endocrinology and metabolism · 2024Article
- LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.BMC genomics · 2024Article
- Reliable method for predicting the binding affinity of RNA-small molecule interactions using machine learning.Briefings in bioinformatics · 2024Article
- Repeating themes of plastic genes and therapeutic schemes targeting the 'tandem repeatome'.Brain communications · 2024Article
- Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities.Translational psychiatry · 2023Review
- Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.Emerging topics in life sciences · 2023Article
- Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.Emerging topics in life sciences · 2023Review
- Expanding horizons of tandem repeats in biology and medicine: Why 'genomic dark matter' matters.Emerging topics in life sciences · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Bioinformatic methods for detecting short tandem repeat expansions in short-read sequencing have identified new repeat expansions in humans, but require alignment information to identify repetitive motif enrichment at genomic locations. We present superSTR, an ultrafast method that does not require alignment. superSTR is used to process whole-genome and whole-exome sequencing data, and perform the first STR analysis of the UK Biobank, efficiently screening and identifying known and potential disease-associated STRs in the exomes of 49,953 biobank participants. We demonstrate the first bioinformatic screening of RNA sequencing data to detect repeat expansions in humans and mouse models of ataxia and dystrophy.
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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.