Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Performance of In Silico Prediction Tools for Variant Curation in a Panel of Cancer Genes.

Human mutation - 1 Jan 2026

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA1 Protein
Share to Computational Biology
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TERT gene

Share to Genes, Neoplasm

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 42327342
DOI: 10.1155/humu/8817550
PMCID: PMC13282463

Genes

TERT
TP53
ATM
BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Performance of In Silico Prediction Tools for Variant Curation in a Panel of Cancer Genes.PMID 42327342Read ↗

The performance of in silico prediction tools for variant curation in a panel of cancer genes.Semantic proximity Read ↗

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Semantic proximity Read ↗

Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity Read ↗

Evaluation of<i>in silico tools</i>for variant classification in missense variants of solid cancer with actionable genetic targetsSemantic proximity Read ↗

Insights for variant clinical interpretation based on a benchmark of 65 variant effect predictors.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline<i>ATM</i>sequence variantsSemantic proximity Read ↗

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsSemantic proximity Read ↗

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.Semantic proximity Read ↗

Assessment of variant effect predictors unveils variants difficulty as a critical performance indicatorSemantic proximity Read ↗

A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.Semantic proximity Read ↗

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithmsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.