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

Functional impact of missense variants in BRCA1 predicted by supervised learning.

PLoS computational biology - 16 Feb 2007

Karchin Rachel, Monteiro Alvaro N A, Tavtigian Sean V, Carvalho Marcelo A, Sali Andrej

Abstract excerpt

Many individuals tested for inherited cancer susceptibility at the BRCA1 gene locus are discovered to have variants of unknown clinical significance (UCVs). Most UCVs cause a single amino acid residue (missense) change in the BRCA1 protein. They can be biochemically assayed, but such evaluations are time-consuming and labor-intensive. Computational methods that classify and suggest explanations for UCV impact on...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Artificial Intelligence
Share to BRCA1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pattern Recognition, Automated

Share to Sequence Alignment

Share to Sequence Analysis, Protein

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 17305420
DOI: 10.1371/journal.pcbi.0030026
PMCID: PMC1797820

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional impact of missense variants in BRCA1 predicted by supervised learning.PMID 17305420Read ↗

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.Semantic proximity Read ↗

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.Semantic proximity Read ↗

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.Semantic proximity Read ↗

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction modelsSemantic proximity Read ↗

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.Semantic proximity Read ↗

Predicting Pathogenicity of Missense Variants with Weakly Supervised RegressionSemantic proximity Read ↗

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.Semantic proximity Read ↗

A guide for functional analysis of BRCA1 variants of uncertain significance.Semantic proximity Read ↗

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.Semantic proximity Read ↗

Machine learning approach to assess the pathogenicity of BRCA1/2 genetic variants : brca-NOVUSSemantic proximity Read ↗

Classification of BRCA1 missense variants of unknown clinical significance.Semantic proximity Read ↗

In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.Semantic proximity Read ↗

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