Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TruSight Oncology 500 Kit.

doi:10.1016/j.jmoldx.2025.12.001

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Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TruSight Oncology 500 Kit.

The Journal of molecular diagnostics : JMD - 1 Mar 2026

Smoley Stephanie A, Sivasankaran Gopinath, Gandham Mallika, Pitel Beth A, Knight Shannon M, Nelson Stefan W, Mistry Nipun A, Geiersbach Katherine B, Gupta Sounak, Halling Kevin C, Jenkins Robert B, Al-Kateb Hussam

Abstract excerpt

Large-scale tumor molecular profiling has enabled the discovery of diagnostic, prognostic, and therapeutic biomarkers, and expanded the clinical utility of alterations such as gene amplifications (GAMPs), homozygous deletions (HMZ-Dels), and biallelic inactivation (BI) of tumor suppressor genes. Comprehensive clinical detection of these events is essential for optimal patient management. Illumina's TruSight...

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PMID: 41421494
DOI: 10.1016/j.jmoldx.2025.12.001

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