Evidence map›Paper›PMID 42327342›Full record

ArticleHuman mutation2026

The Performance of

Niles Nelson, Aram Niaz, Kirsten Fairfax, Tracy M Bryan, Sionne Lucas, Joanne Dickinson

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. The Performance ofHuman mutation · 2026
    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

6 authors.

Niles NelsonThe Menzies Institute for Medical Research, College of Health and Medicine, The University of Tasmania, Hobart, Tasmania, Australia.ORCID https://orcid.org/0000-0003-0223-580X
Aram NiazChildren's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0001-6636-2555
Kirsten FairfaxThe Menzies Institute for Medical Research, College of Health and Medicine, The University of Tasmania, Hobart, Tasmania, Australia.ORCID https://orcid.org/0000-0002-8394-137X
Tracy M BryanChildren's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-7990-5501
Sionne LucasThe Menzies Institute for Medical Research, College of Health and Medicine, The University of Tasmania, Hobart, Tasmania, Australia.ORCID https://orcid.org/0000-0003-0104-5406
Joanne DickinsonThe Menzies Institute for Medical Research, College of Health and Medicine, The University of Tasmania, Hobart, Tasmania, Australia.ORCID https://orcid.org/0000-0003-4621-1703

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rare single base pair changes in genes are an important cause of disease, as they can reside in key regions of the gene influencing biological function by impacting the protein conformation and protein interactions. Generation of the necessary experimental evidence to define the outcome of the presence of these gene variants is time-consuming and costly. These challenges have led to the development of a plethora of

Indexed as

Computational BiologyGenes, NeoplasmGenetic VariationNeoplasmsBRCA1 ProteinComputer SimulationGenetic Predisposition to DiseaseHumansBRCA1 Protein

Identifiers

PMID42327342
PMCPMC13282463

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.