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 challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2016

Pepin Melanie G, Murray Mitzi L, Bailey Samuel, Leistritz-Kessler Dru, Schwarze Ulrike, Byers Peter H

Abstract excerpt

PURPOSE: Genetic testing has shifted from academic laboratories with expertise in specific genes to commercial laboratories that offer tests of a diverse array of genes. The purpose of this comparative study was to determine whether one academic laboratory's model of variant interpretation is similar to that of several commercial laboratories. METHODS: The Collagen Diagnostic Laboratory (CDL) received, over a...

Read the complete abstract on PubMed

Topics

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

Share to Data Interpretation, Statistical
Share to Gene Frequency

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

Share to Genetic Association Studies

Share to Genetic Testing

Share to Genetic Variation

Share to Reproducibility of Results

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 25834947
DOI: 10.1038/gim.2015.31

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

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.PMID 25834947Read ↗

Challenges and Considerations in Sequence Variant Interpretation for Mendelian DisordersSemantic proximity Read ↗

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Semantic proximity Read ↗

The current state of clinical interpretation of sequence variants.Semantic proximity Read ↗

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.Semantic proximity Read ↗

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.Semantic proximity Read ↗

Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Semantic proximity Read ↗

A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.Semantic proximity Read ↗

Reporting practices for variants of uncertain significance from next generation sequencing technologies.Semantic proximity Read ↗

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.Semantic proximity Read ↗

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeSemantic proximity Read ↗

Clinical Interpretation of Sequence Variants.Semantic proximity Read ↗

An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.Semantic proximity Read ↗

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