Work

P354: Automated reanalysis of clinical genetic test results: High variant reclassification rate

Year: 2024

Type: article

Abstract: Since 2015, sequence variants have been classified according to standards and guidelines set by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology. Reanalysis of any variants that may impact clinical management should receive prioritization. Recent advancements in bioinformatics enable routine automated reclassification of previously reported variants and increase access to potentially actionable genetic information. Access to accurate and updated variant classification is critical for precise treatment for an increasing number of conditions including genetic epilepsies.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101248