Points to consider for the next-generation-sequencing-based detection of copy-number abnormalities (CNAs) and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics (ACMG)

Key Points

• Next-generation sequencing enables precise detection of copy-number abnormalities and balanced chromosomal rearrangements.
• Key considerations include the need for clear guidelines and standardized protocols for implementation in clinical settings.
• This observational analysis highlights the importance of addressing technical challenges to ensure accurate assessments of neoplastic disorders.
• The findings support the development of consensus statements to guide future research and clinical applications in genetic testing.