Article
PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
The Journal of molecular diagnostics : JMD - 1 Jul 2017
Currás-Freixes Maria, Piñeiro-Yañez Elena, Montero-Conde Cristina, Apellániz-Ruiz María, Calsina Bruna, Mancikova Veronika, Remacha Laura, Richter Susan, Ercolino Tonino, Rogowski-Lehmann Natalie, Deutschbein Timo, Calatayud María, Guadalix Sonsoles, Álvarez-Escolá Cristina, Lamas Cristina, Aller Javier, Sastre-Marcos Julia, Lázaro Conxi, Galofré Juan C, Patiño-García Ana, Meoro-Avilés Amparo, Balmaña-Gelpi Judith, De Miguel-Novoa Paz, Balbín Milagros, Matías-Guiu Xavier, Letón Rocío, Inglada-Pérez Lucía, Torres-Pérez Rafael, Roldán-Romero Juan M, Rodríguez-Antona Cristina, Fliedner Stephanie M J, Opocher Giuseppe, Pacak Karel, Korpershoek Esther, de Krijger Ronald R, Vroonen Laurent, Mannelli Massimo, Fassnacht Martin, Beuschlein Felix, Eisenhofer Graeme, Cascón Alberto, Al-Shahrour Fátima, Robledo Mercedes
Abstract excerpt
Genetic diagnosis is recommended for all pheochromocytoma and paraganglioma (PPGL) cases, as driver mutations are identified in approximately 80% of the cases. As the list of related genes expands, genetic diagnosis becomes more time-consuming, and targeted next-generation sequencing (NGS) has emerged as a cost-effective tool. This study aimed to optimize targeted NGS in PPGL genetic diagnostics. A workflow based...
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