Evidence map›Paper›PMID 38366034›Full record

ReviewNature reviews. Genetics2024

Sequencing and characterizing short tandem repeats in the human genome.

Hope A Tanudisastro, Ira W Deveson, Harriet Dashnow, Daniel G MacArthur

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.

0numbers the graph read from it
0cells of the map it votes in
79citing 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

79 citing papers in PubMed.

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  14. Virtual cell: Current perspectives and future prospects.The Journal of international medical research · 2026
    Review
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19 more citing papers are in PubMed but not listed here.

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

4 authors.

Hope A TanudisastroCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-4561-305X
Ira W DevesonFaculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3861-0472
Harriet DashnowDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA. h.dashnow@gmail.com.ORCID http://orcid.org/0000-0001-8433-6270
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia. daniel.macarthur@populationgenomics.org.au.ORCID http://orcid.org/0000-0002-5771-2290

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short tandem repeats (STRs) are highly polymorphic sequences throughout the human genome that are composed of repeated copies of a 1-6-bp motif. Over 1 million variable STR loci are known, some of which regulate gene expression and influence complex traits, such as height. Moreover, variants in at least 60 STR loci cause genetic disorders, including Huntington disease and fragile X syndrome. Accurately identifying and genotyping STR variants is challenging, in particular mapping short reads to repetitive regions and inferring expanded repeat lengths. Recent advances in sequencing technology and computational tools for STR genotyping from sequencing data promise to help overcome this challenge and solve genetically unresolved cases and the 'missing heritability' of polygenic traits. Here, we compare STR genotyping methods, analytical tools and their applications to understand the effect of STR variation on health and disease. We identify emergent opportunities to refine genotyping and quality-control approaches as well as to integrate STRs into variant-calling workflows and large cohort analyses.

Indexed as

Genome, HumanMicrosatellite RepeatsGenotypeGenotyping TechniquesHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNA

Identifiers

PMID38366034

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.