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

Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.

The Journal of molecular diagnostics : JMD - 1 Sept 2015

Blais Jonatan, Lavoie Sébastien B, Giroux Sylvie, Bussières Johanne, Lindsay Carmen, Dionne Jacqueline, Laroche Mélissa, Giguère Yves, Rousseau François

Abstract excerpt

Quality control is a complex issue for clinical molecular diagnostic applications. In the case of genotyping assays, artifacts such as allele dropout represent a risk of misdiagnosis for amplification-based methods. However, its frequency of occurrence in PCR-based diagnostic assays remains unknown. To maximize the likelihood of detecting allele dropout, our clinical genotyping PCR-based assays are designed with...

Read the complete abstract on PubMed

Topics

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

Share to Artifacts
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Diagnostic Errors

Share to False Positive Reactions

Share to Genotyping Techniques

Share to Loss of Heterozygosity

Share to Molecular Diagnostic Techniques

Share to Risk Factors

Source

Identifiers

PMID: 26146130
DOI: 10.1016/j.jmoldx.2015.04.004

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.PMID 26146130Read ↗

Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory.Semantic proximity Read ↗

Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm.Semantic proximity Read ↗

Robustness of single-base extension against mismatches at the site of primer attachment in a clinical assay.Semantic proximity Read ↗

HLA-A locus allelic dropout in Sanger sequence-based typing due to the single nucleotide polymorphism of exon 1.Semantic proximity Read ↗

Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.Semantic proximity Read ↗

Combining multiple PCR primer pairs for each amplicon can improve SNP genotyping accuracy by reducing allelic drop-out.Semantic proximity Read ↗

Maximizing allele detection: Effects of analytical threshold and DNA levels on rates of allele and locus drop-out.Semantic proximity Read ↗

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene PanelsSemantic proximity Read ↗

Differential dropout among SNP genotypes and impacts on association tests.Semantic proximity Read ↗

Multiple genetic diagnoses from single cells using multiplex PCR: reliability and allele dropout.Semantic proximity Read ↗

Analysis of allelic drop-out using the Identifiler(®) and PowerPlex(®) 16 forensic STR typing systems.Semantic proximity Read ↗

Allelic dropout caused by allele-specific amplification failure in single-cell PCR of the cystic fibrosis delta F508 deletion.Semantic proximity Read ↗

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