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Updated: Aug 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Best Practice for Clinical Somatic Variant Interpretation and Reporting
Jeffrey Schubert1, Jinhua Wu1, Marilyn M Li2
1Division of Genomic Diagnostics, Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, 3615 Civic Center boulevard, 706 ARC, Philadelphia, PA 19104, USA.
Abstract:
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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