![]() ![]() WES (three different library preparation and bioinformatics workflows) and an in-house, hybridization based gene panel ( endocrine- onco- gene-panel- ENDOGENE) was evaluated on 37 (20 WES and 17 ENDOGENE) samples with known variants. ![]() We aimed to evaluate the analytical and clinical performances of NGS methods for mutation detection of PPGL-associated genes. Germline mutations of at the least 18 PPGL genes are present in approximately 20–40% of patients, thus molecular genetic testing is recommended in all cases. Targeted gene panel and whole exome sequencing (WES) are applied in clinical practice for assessing mutations of pheochromocytoma/paraganglioma (PPGL) associated genes, but the best strategy is debated. Next Generation Sequencing (NGS)-based methods are high-throughput and cost-effective molecular genetic diagnostic tools.
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