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

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017

Harrison Steven M, Dolinsky Jill S, Knight Johnson Amy E, Pesaran Tina, Azzariti Danielle R, Bale Sherri, Chao Elizabeth C, Das Soma, Vincent Lisa, Rehm Heidi L

Abstract excerpt

PURPOSE: Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and...

Read the complete abstract on PubMed

Topics

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

Share to Clinical Laboratory Techniques
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Information Dissemination

Share to Laboratories

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 28301460
DOI: 10.1038/gim.2017.14
PMCID: PMC5600649

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.PMID 28301460Read ↗

Using ClinVar as a Resource to Support Variant Interpretation.Semantic proximity Read ↗

ClinVar: public archive of interpretations of clinically relevant variants.Semantic proximity Read ↗

DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.Semantic proximity Read ↗

ClinVar: improving access to variant interpretations and supporting evidence.Semantic proximity Read ↗

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.Semantic proximity Read ↗

Sources of discordance among germ-line variant classifications in ClinVar.Semantic proximity Read ↗

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

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.Semantic proximity Read ↗

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

ClinVar: improvements to accessing data.Semantic proximity Read ↗

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretationSemantic proximity Read ↗

Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic VariantsSemantic proximity Read ↗

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