Next generation sequencing: a golden tool in mitochondrial diseases

• Author(s): Nogueira, Celia ; Pereira, Cristina ; Silva, Lisbeth ; Vieira, Luis ; Leão Teles, Elisa ; Campos, Teresa ; Rodrigues, Esmeralda ; Martins, Esmeralda ; Bandeira, Anabela ; Soares, Gabriela ; Janeiro, Patricia ; Costa, Claudia ; Gaspar, Ana ; Santos, Helena ; Vilarinho, Laura
• Date: 2018
• Persistent ID: http://hdl.handle.net/10400.18/6368
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Mitochondrial Diseases; Gene Panel; mtDNA; Nuclear Genes; Next Generation Sequencing; NGS; Diagnosis; Doenças Mitocondriais; Doenças Genéticas
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

The development of Next Generation Sequencing (NGS) has revolutionized the diagnostic approach of mitochondrial disorders, particularly in children. The purpose of our project is to develop a NGS strategy to identify the genetic defect in 250 patients, to confirm the clinical diagnosis of the disease.