Evidence map›Paper›PMID 40672393›Full record

ReviewFrontiers in genetics2025

Get ready for short tandem repeats analysis using long reads-the challenges and the state of the art.

Marija Chaushevska, Karmele Alapont-Celaya, Anne Kristine Schack, Lukasz Krych, M Carmen Garrido Navas, Anastasia Krithara, Gjorgji Madjarov

Abstract readReview
In one paragraph

Review in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Systematic Review: Long-Read Sequencing in Algal Studies.International journal of molecular sciences · 2026
    Pooled it
  2. Nanopore Data-Driven Near-T2T Genome Assembly ofPlants (Basel, Switzerland) · 2026
    Article
  3. The novel (TCTG)Human genomics · 2026
    Article
  4. Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Marija ChaushevskaFaculty of Computer Science and Engineering, University Saints Cyril and Methodius, Skopje, North Macedonia.
Karmele Alapont-CelayagMendel ApS, Copenhagen, Denmark.
Anne Kristine SchackgMendel ApS, Copenhagen, Denmark.
Lukasz KrychFood Microbiology and Fermentation, Department of Food Science, University of Copenhagen, Copenhagen, Denmark.
M Carmen Garrido NavasgMendel ApS, Copenhagen, Denmark.
Anastasia KritharaInstitute of Informatics and Telecommunications, National Centre of Scientific Research "Demokritos", Athens, Greece.
Gjorgji MadjarovFaculty of Computer Science and Engineering, University Saints Cyril and Methodius, Skopje, North Macedonia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short tandem repeats (STRs) are repetitive DNA sequences that contribute to genetic diversity and play a significant role in disease susceptibility. The human genome contains approximately 1.5 million STR loci, collectively covering around 3% of the total sequence. Certain repeat expansions can significantly impact cellular function by altering protein synthesis, impairing DNA repair, and leading to neurodegenerative and neuromuscular diseases. Traditional short-read sequencing struggles to accurately characterize STRs due to its limited read length, which limits the ability to resolve repeat expansions, increases mapping errors, and reduces sensitivity for detecting large insertions or interruptions. This review examines how long-read sequencing technologies, particularly Oxford Nanopore and PacBio, overcome these limitations by enabling direct sequencing of full STR regions with improved accuracy. We discuss challenges in sequencing, bioinformatics workflows, and the latest computational tools for STR detection. Additionally, we highlight the strengths and limitations of different methods, providing deeper insight into the future of STR genotyping.

Indexed as

bioinformatics toolslong readssequencing technologiesshort tandem repeatsstructural variantsvariant detection

Identifiers

PMID40672393
PMCPMC12263367

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.