Best Practice for Clinical Somatic Variant Interpretation and Reporting.

Clin Lab Med

Division of Genomic Diagnostics, Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, 3615 Civic Center boulevard, 706 ARC, Philadelphia, PA 19104, USA. Electronic address:

Published: September 2022

Because the clinical impact of cancer genomics is being increasingly recognized, tumor sequencing will likely continue to expand in breadth and scope. Therefore, it is vital for laboratory professionals to adopt the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists guidelines and create a standardized system of classification and nomenclature for somatic variants. Combining robust bioinformatics pipelines with thorough data analysis is necessary to efficiently and reproducibly identify and assess the impact of clinically relevant variants.

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http://dx.doi.org/10.1016/j.cll.2022.04.006DOI Listing

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