Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; peer review: 3 approved]

• Published in: F1000 research Vol. 6; p. 1016
• Main Authors: Totomoch-Serra, Armando, Marquez, Manlio F, Cervantes-Barragán, David E
• Format: Journal Article
• Language: English
• Published: England Faculty of 1000 Ltd 2017; F1000Research; F1000 Research Ltd
• Subjects: Andersen's syndrome; Base pairs; Cardiovascular diseases; Channelopathy; Deoxyribonucleic acid; Diagnosis; DNA; DNA sequencing; EKG; Exons; Genetics; Genomics; KCNJ2 gene; Mutation; Nucleotide sequence; Opinion; Potassium; Potassium channels (inwardly-rectifying); Proteins; Sanger, Frederick; Ventricle; clinical diagnosis; mutation; Andersen-Tawil; genetic testing; Sanger sequencing; KCNJ2; Next Generation Sequencing

In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).  Recently, massive parallel sequencing, better known as next-generation sequencing (NGS),  is replacing the SSM for detecting mutations in cardi...