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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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

id	sg-nus-scholar.10635-183458
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spelling	sg-nus-scholar.10635-1834582023-10-31T22:07:46Z Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients Lim, E.C Brett, M Lai, A.H Lee, S.-P Tan, E.-S Jamuar, S.S Ng, I.S Tan, E.-C DUKE-NUS MEDICAL SCHOOL INSTITUTE OF MOLECULAR & CELL BIOLOGY 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 Diseases, Inborn 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 10.1186/s40246-015-0055-x Human genomics 9 33 2020-11-17T02:53:23Z 2020-11-17T02:53:23Z 2015 Article Lim, E.C, Brett, M, Lai, A.H, Lee, S.-P, Tan, E.-S, Jamuar, S.S, Ng, I.S, Tan, E.-C (2015). Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Human genomics 9 : 33. ScholarBank@NUS Repository. https://doi.org/10.1186/s40246-015-0055-x 14797364 https://scholarbank.nus.edu.sg/handle/10635/183458 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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 Diseases, Inborn 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
spellingShingle	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 Diseases, Inborn 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 Lim, E.C Brett, M Lai, A.H Lee, S.-P Tan, E.-S Jamuar, S.S Ng, I.S Tan, E.-C Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
description	10.1186/s40246-015-0055-x
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Lim, E.C Brett, M Lai, A.H Lee, S.-P Tan, E.-S Jamuar, S.S Ng, I.S Tan, E.-C
format	Article
author	Lim, E.C Brett, M Lai, A.H Lee, S.-P Tan, E.-S Jamuar, S.S Ng, I.S Tan, E.-C
author_sort	Lim, E.C
title	Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
title_short	Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
title_full	Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
title_fullStr	Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
title_full_unstemmed	Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
title_sort	next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/183458
_version_	1781792620884787200

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

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