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

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

Human mutation - 1 Nov 2014

Hendriks Giel, Morolli Bruno, Calléja Fabienne M G R, Plomp Anouk, Mesman Romy L S, Meijers Matty, Sharan Shyam K, Vreeswijk Maaike P G, Vrieling Harry

Abstract excerpt

The implementation of next-generation sequence analysis of disease-related genes has resulted in an increasing number of genetic variants with an unknown clinical significance. The functional analysis of these so-called "variants of uncertain significance" (VUS) is hampered by the tedious and time-consuming procedures required to generate and test specific sequence variants in genomic DNA. Here, we describe an...

Read the complete abstract on PubMed

Topics

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

Share to BRCA2 Protein
Share to Embryonic Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to Genetic Association Studies

Share to Genetic Testing

Share to Mutagenesis, Site-Directed

Share to RNA Splicing

Share to Selection, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 25146914
DOI: 10.1002/humu.22678
PMCID: PMC6706860

Genes

BRCA2

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

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.PMID 25146914Read ↗

A high-throughput functional complementation assay for classification of BRCA1 missense variants.Semantic proximity Read ↗

Functional assays for analysis of variants of uncertain significance in BRCA2.Semantic proximity Read ↗

Functional analysis of human BRCA2 variants using a mouse embryonic stem cell-based assay.Semantic proximity Read ↗

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.Semantic proximity Read ↗

Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants.Semantic proximity Read ↗

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.Semantic proximity Read ↗

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.Semantic proximity Read ↗

Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.Semantic proximity Read ↗

AVENGERS: Analysis of Variant Effects using Next Generation sequencing to Enhance <i>BRCA2</i> StratificationSemantic proximity Read ↗

High-Throughput Functional Evaluation of <i>BRCA2</i> Variants of Unknown SignificanceSemantic proximity Read ↗

High-throughput functional evaluation of BRCA2 variants of unknown significance.Semantic proximity Read ↗

Saturation genome editing-based clinical classification of BRCA2 variants.Semantic proximity Read ↗

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