Evidence map›Paper›PMID 42038259›Full record

ArticleBrain communications2026

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

Carolin K Scriba, Chiara Folland, Michael Black, Jessica Baker, Daniel Abromeit, Samantha Saw, Mei-Ting Chiew, Rebecca Gooding, Nigel G Laing, Mark R Davis and 1 more

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Article in Brain communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Carolin K ScribaCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia.ORCID https://orcid.org/0000-0001-9874-3846
Chiara FollandCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia.ORCID https://orcid.org/0000-0002-6346-4828
Michael BlackDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.ORCID https://orcid.org/0009-0006-9483-3629
Jessica BakerDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
Daniel AbromeitDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
Samantha SawDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
Mei-Ting ChiewDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
Rebecca GoodingDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
Nigel G LaingCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia.
Mark R DavisDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.ORCID https://orcid.org/0000-0002-0626-9030
Gianina RavenscroftCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia.ORCID https://orcid.org/0000-0003-3634-211X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short tandem repeat expansions are associated with over 50 diseases, many with primary neurological presentations. Despite the prevalence of short tandem repeat expansion disorders, genetically diagnosing these conditions is complicated by a lack of efficient and comprehensive diagnostic screening approaches. We integrated a new short tandem repeat genotyping tool, STRipy, into the analytical workflow for short-read sequencing data generated by the comprehensive neurological disease gene panel used in the Diagnostic Genomics Department, PathWest Laboratory Medicine. We tested STRipy on Versions 6 and 7 of the panel. Version 6 already included probes covering five short tandem repeat expansion loci in the following genes:

Indexed as

ataxiadiagnostic screeningneurogeneticsSTRs

Identifiers

PMID42038259
PMCPMC13107179

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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.