Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

ABSTRACT: Molecular diagnostics are increasingly performed routinely in the diagnosis and management of patients with melanoma due to the development of novel therapies that target specific genetic mutations. The development of next-generation sequencing (NGS) technologies has enabled to sequence multiple cancer-driving genes in a single assay, with improved sensitivity in mutation detection. The main objective of this study was the design and implementation of a melanoma-specific sequencing panel, and the identification of the spectrum of somatic mutations in a series of primary melanoma samples. A custom panel was designed to cover the coding regions of 35 melanoma-related genes. Panel average coverage was 2,575.5 reads per amplicon, with 92,8% of targeted bases covered ≥500×. Deep coverage enable

SUBMITTER: de Unamuno Bustos B 

PROVIDER: S-EPMC5428782 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature