Evidence map›Paper›PMID 38982300›Full record

ReviewEuropean journal of human genetics : EJHG2024

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Kevin Uguen, Jacques L Michaud, Emmanuelle Génin

Abstract readReview
In one paragraph

Review in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Review
  7. Genomic technologies identify milder presentations of Mendelian disease.European journal of human genetics : EJHG · 2024
    Article
  8. Review
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

3 authors.

Kevin UguenUniv Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. kevin.uguen@univ-brest.fr.ORCID 0000-0002-6744-2837
Jacques L MichaudCHU Sainte-Justine Azrieli Research Centre, Montréal, QC, Canada.ORCID 0000-0002-9912-0293
Emmanuelle GéninUniv Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.ORCID 0000-0003-4117-2813

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this study, we explore the landscape of short tandem repeats (STRs) within the human genome through the lens of evolving technologies to detect genomic variations. STRs, which encompass approximately 3% of our genomic DNA, are crucial for understanding human genetic diversity, disease mechanisms, and evolutionary biology. The advent of high-throughput sequencing methods has revolutionized our ability to accurately map and analyze STRs, highlighting their significance in genetic disorders, forensic science, and population genetics. We review the current available methodologies for STR analysis, the challenges in interpreting STR variations across different populations, and the implications of STRs in medical genetics. Our findings underscore the urgent need for comprehensive STR databases that reflect the genetic diversity of global populations, facilitating the interpretation of STR data in clinical diagnostics, genetic research, and forensic applications. This work sets the stage for future studies aimed at harnessing STR variations to elucidate complex genetic traits and diseases, reinforcing the importance of integrating STRs into genetic research and clinical practice.

Indexed as

High-Throughput Nucleotide SequencingMicrosatellite RepeatsDatabases, GeneticGenetics, PopulationGenetic VariationGenome, HumanHumans

Identifiers

PMID38982300
PMCPMC11369099

What OpenQuestion holds

Textmetadata
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.