Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

• Main Authors: Lim, E.C, Brett, M, Lai, A.H, Lee, S.-P, Tan, E.-S, Jamuar, S.S, Ng, I.S, Tan, E.-C
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: 2020
• Subjects: child; cohort analysis; DNA sequence; exome; female; gene library; genetic database; Genetic Diseases, Inborn; genetic predisposition; genetics; genomics; high throughput sequencing; human; human genome; infant; male; molecular diagnosis; mutation; newborn; preschool child; procedures; sensitivity and specificity; sequence alignment; single nucleotide polymorphism; Child; Child, Preschool; Cohort Studies; Databases, Genetic; Exome; Female; Gene Library; Genetic Predisposition to Disease; Genome, Human; Genomics; High-Throughput Nucleotide Sequencing; Humans; Infant; Infant, Newborn; Male; Molecular Diagnostic Techniques; Mutation; Polymorphism, Single Nucleotide; Sensitivity and Specificity; Sequence Alignment; Sequence Analysis, DNA
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/183458
• Institution: National University of Singapore

10.1186/s40246-015-0055-x