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 Variant Reclassification in Hereditary Disease Genetic Testing.

JAMA network open - 4 Nov 2024

Kobayashi Yuya, Chen Elaine, Facio Flavia M, Metz Hillery, Poll Sarah R, Swartzlander Dan, Johnson Britt, Aradhya Swaroop

Abstract excerpt

Importance: Because accurate and consistent classification of DNA sequence variants is fundamental to germline genetic testing, understanding patterns of initial variant classification (VC) and subsequent reclassification from large-scale, empirical data can help improve VC methods, promote equity among race, ethnicity, and ancestry (REA) groups, and provide insights to inform clinical practice. Objectives: To...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Cohort Studies

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

Share to Genetic Diseases, Inborn

Share to Genetic Testing

Share to Genetic Variation

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39504018
DOI: 10.1001/jamanetworkopen.2024.44526
PMCID: PMC11541632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 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

Clinical Variant Reclassification in Hereditary Disease Genetic Testing.PMID 39504018Read ↗

Variant classification changes over time in the clinical molecular diagnostic laboratory setting.Semantic proximity Read ↗

Variant reclassification and clinical implications.Semantic proximity Read ↗

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic TestingSemantic proximity Read ↗

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.Semantic proximity Read ↗

Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year PeriodSemantic proximity Read ↗

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).Semantic proximity Read ↗

The ten year evolution of Sherloc, a points-based framework for genetic variant classificationSemantic proximity Read ↗

A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes.Semantic proximity Read ↗

Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.Semantic proximity Read ↗

The impact of variant classification on the clinical management of hereditary cancer syndromes.Semantic proximity Read ↗

Factors predicting reclassification of variants of unknown significance.Semantic proximity Read ↗

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.Semantic proximity Read ↗

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