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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...

Topics

Humans
Genetic Testing
Female
Genetic Diseases, Inborn
Male
Cohort Studies
Adult
Genetic Variation
Middle Aged
Adolescent
Child
Young Adult

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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