Evidence map›Paper›PMID 39669608›Full record

ArticleGenetics in medicine open2024

Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.

Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

11 authors.

Hailey Findlay BlackCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Chris KayCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Jessica DawsonCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Stephanie BortnickCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Kyla JavierCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Qingwen XiaCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Cheuk Hin ChauCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Tess LeavittCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Larissa ArningDepartment of Human Genetics, Medical Faculty, Ruhr University of Bochum, Bochum, Germany.
Huu Phuc NguyenDepartment of Human Genetics, Medical Faculty, Ruhr University of Bochum, Bochum, Germany.
Michael R HaydenCentre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the Methods: We used triplet-primed PCR (TP-PCR) to amplify Results: TP-PCR enables accurate reporting of uninterrupted CAG repeat length in diagnostic testing by detecting HD alleles with loss or duplication of the CAG repeat interruption. Conclusion: PHR screening of TP-PCR traces is a cost-effective screening method for detection, ascertainment of uninterrupted

Indexed as

Genetic modifiersHuntington diseaseLoss of interruptionTriplet-primed PCRVariant screening

Identifiers

PMID39669608
PMCPMC11613659

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.