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

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

10.1186/s40246-015-0055-x

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Bibliographic Details
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
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Institution:	National University of Singapore

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Summary:	10.1186/s40246-015-0055-x