69. Efficient clinical review of complex NGS tumor copy number profiles using ACMG/CGC guidelines and an interactive web app

Clinical analysis and reporting of somatically acquired copy number abnormalities (CNAs) detected through genome-wide next-generation sequencing (NGS) is time consuming and requires significant expertise. Recent guidelines for the clinical assessment of tumor CNAs harmonized and simplified the reporting criteria but did not directly address NGS-specific concerns or the need for a standardized and scalable analysis protocol. Therefore, a Standard Operating Procedure (SOP) for CNA analysis is needed to address these challenges and provide opportunities for efficient clinical review and reporting.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Ellen Chen, Jinlian Wang, Robert Kueffner, Hussam Al-Kateb, Antonina Silkov, Andrew Uzilov, Lucas Lochovsky, Hui Li, Scott Newman Source Type: research