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Updated: Jul 26, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
Kala F Schilter1, Sarah Dubay2, Matt Stachowiak2
1Precision Medicine Laboratory, Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.
Abstract:
Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in established guidelines, association with clinical significance such as FDA approved drugs and clinical trials, and finally comprehensive reporting. This study documents our experience with the customization and implementation of a software platform that facilitates these requirements for effective reporting of somatic variants.
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