NDLI: Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases

Content Provider	Scilit
Author	Bacchelli, Chiara Williams, Hywel J.
Copyright Year	2016
Related Links	http://discovery.ucl.ac.uk/1514849/1/Bacchelli_Opportunities_and_technical_challenges_Combined.pdf
Ending Page	1082
Page Count	10
Starting Page	1073
ISSN	14737159
e-ISSN	17448352
DOI	10.1080/14737159.2016.1222906
Journal	Expert Review of Molecular Diagnostics
Issue Number	10
Volume Number	16
Language	English
Publisher	Informa UK Limited
Publisher Date	2016-08-25
Access Restriction	Open
Subject Keyword	Journal: Expert Review of Molecular Diagnostics Pediatrics and Child Health Rare Disease Next Generation Sequencing Whole Genome Sequencing Whole Exome Sequencing Phenotype Paediatric Mutation Bioinformatics Personalised Medicine Network Analysis
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Molecular Medicine Pathology and Forensic Medicine

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Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases