Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

doi:10.1101/gr.3313405

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

Community

Back to search

Article

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

Genome research - 1 Jul 2005

Alharbi Khalid K, Aldahmesh Mohammed A, Spanakis Emmanuel, Haddad Lema, Whittall Roslyn A, Chen Xiao-he, Rassoulian Hamid, Smith Matt J, Sillibourne Julie, Ball Nicola J, Graham Nikki J, Briggs Patricia J, Simpson Iain A, Phillips David I W, Lawlor Deborah A, Ye Shu, Humphries Stephen E, Cooper Cyrus, Smith George Davey, Ebrahim Shah, Eccles Diana M, Day Ian N M

Abstract excerpt

We have developed a mutation-scanning approach suitable for whole population screening for unknown mutations. The method, meltMADGE, combines thermal ramp electrophoresis with MADGE to achieve suitable cost efficiency and throughput. The sensitivity was tested in blind trials using 54 amplicons representing the BRCA1 coding region and a panel of 94 unrelated family breast cancer risk consultands previously...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Electrophoresis, Polyacrylamide Gel

Share to Genes, BRCA1

Share to Hyperlipoproteinemia Type II

Share to Population Surveillance

Share to Receptors, LDL

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 15998910
DOI: 10.1101/gr.3313405
PMCID: PMC1172041

Genes

BRCA1
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.PMID 15998910Read ↗

Population mutation scanning of human GHR by meltMADGE and identification of a paucimorphic variant.Semantic proximity Read ↗

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.Semantic proximity Read ↗

Deep sequencing to reveal new variants in pooled DNA samples.Semantic proximity Read ↗

Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis.Semantic proximity Read ↗

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.Semantic proximity Read ↗

High resolution melting analysis for gene scanning.Semantic proximity Read ↗

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.Semantic proximity Read ↗

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.Semantic proximity Read ↗

High-resolution melting analysis (HRMA): more than just sequence variant screening.Semantic proximity Read ↗

Haplotype and Presence-Absence Variation Analysis Using High-Resolution Melting (HRM) Analysis for Genotyping Genes of Interest.Semantic proximity Read ↗

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.Semantic proximity Read ↗

Microplate array diagonal gel electrophoresis for mutation research in DNA banks.Semantic proximity Read ↗

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