Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application.

ABSTRACT: Molecular profiling of tumor samples has acquired importance in cancer research, but currently also plays an important role in the clinical management of cancer patients. Rapid identification of genomic aberrations improves diagnosis, prognosis and effective therapy selection. This can be attributed mainly to the development of next-generation sequencing (NGS) methods, especially targeted DNA panels. Such panels enable a relatively inexpensive and rapid analysis of various aberrations with clinical impact specific to particular diagnoses. In this review, we discuss the experimental approaches and bioinformatic strategies available for the development of an NGS panel for a reliable analysis of selected biomarkers. Compliance with defined analytical steps is crucial to ensure accurate and re

SUBMITTER: Hynst J 

PROVIDER: S-EPMC8019320 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature