Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Objectives: Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease-related genes. The pilot study was pri...

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Bibliographic Details
Main Authors: Chan, T.C.H (Author), Lau, W.T (Author), Mak, C.M (Author), Tsang, K.Y (Author), Wong, T.K (Author), Yeung, M.C.W (Author)
Format: Article
Language:English
Published: Walter de Gruyter GmbH 2021
Subjects:
amplicon
Article
diagnostic test accuracy study
diagnostic value
DNA extraction
dried blood spot (DBS)
gene library
genome
high throughput sequencing
human
inborn error of metabolism
inborn errors of metabolism (IEM)
indel mutation
measurement repeatability
newborn
newborn screening
newborn screening (NBS)
next generation sequencing (NGS)
pilot study
quality control procedures
second-tier test
sensitivity and specificity
sequence analysis
single nucleotide polymorphism
turnaround time
validation process
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