Clinical Variant Reclassification in Hereditary Disease Genetic Testing.

ABSTRACT:

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 measure the degree to which initial VCs met certainty thresholds set by professional guidelines and quantify the rates of, the factors associated with, and the impact of reclassification among more than 2 million variants.

Design, setting, and participants

This cohort study used clinical multigene panel and exome sequencing data from diagnostic testing for heredit

SUBMITTER: Kobayashi Y 

PROVIDER: S-EPMC11541632 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature