Evidence map›Paper›PMID 41757157›Full record

ArticleBioinformatics advances2026

Amy Francis, Colin Campbell, Tom R Gaunt

Abstract read
In one paragraph

Article in Bioinformatics advances, 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

3 authors.

Amy FrancisMRC Integrative Epidemiology Unit, Bristol Medical School (PHS), University of Bristol, Oakfield House, Bristol BS8 2BN, United Kingdom.ORCID https://orcid.org/0009-0004-4807-1454
Colin CampbellIntelligent Systems Laboratories, University of Bristol, Bristol BS1 5DD, United Kingdom.ORCID https://orcid.org/0000-0002-6485-6014
Tom R GauntMRC Integrative Epidemiology Unit, Bristol Medical School (PHS), University of Bristol, Oakfield House, Bristol BS8 2BN, United Kingdom.ORCID https://orcid.org/0000-0003-0924-3247

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Motivation: Missense variants-single nucleotide substitutions that result in an amino acid change in the encoded protein-play an important role in cancer. Distinguishing between recurrent and rare missense variants may reveal insights into selective pressures and functional consequences. While recurrent variants may undergo positive selection across patients, rare variants can also drive resistance or other phenotypes. However, most existing tools predict pathogenicity across broad populations and ignore tumour-specific contexts. Here, we present Results: We curated data from the International Cancer Genome Consortium (ICGC) and trained 50 cancer-specific models. These significantly outperformed a pan-cancer baseline, achieving up to 90% F1 score in leave-one-group-out cross-validation (LOGO-CV) for skin melanoma. Notably, DNA shape features ranked among the most predictive across all cancers, with recurrent variants enriched in structurally complex DNA regions such as bends and rolls-potential mutational hotspots. Availability and implementation: All code and data are available at

Identifiers

PMID41757157
PMCPMC12935160

What Socratic 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 Socratic graph.