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

Bacchelli, C; Williams, HJ; (2016) Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics , 16 (10) pp. 1073-1082. 10.1080/14737159.2016.1222906. Green open access

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Abstract

INTRODUCTION: Rare pediatric diseases are clinically severe with high rates of mortality and morbidity. This paper outlines how next-generation sequencing (NGS) can be used to greatly advance identification of the underlying genetic causes. AREAS COVERED: This manuscript is a blend of evidence obtained from literature searches from PubMed and rare disease related websites, laboratory experience and the author’s opinions. The paper covers the current state of the field and identifies where the challenges lie and how they are being overcome, using up-to-date references. EXPERT COMMENTARY: The field of NGS is still relatively new but it has already transformed the field of rare disease research. Technological advances in instrumentation, computational hardware and software have resulted in the identification of many causative genes, but as sequencing moves into population-scale initiatives standardisation and data sharing is going to be of paramount importance to ensure we derive the maximum benefit for patients.

Type: Article
Title: Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/14737159.2016.1222906
Publisher version: http://dx.doi.org/10.1080/14737159.2016.1222906
Language: English
Additional information: Copyright © 2016 Informa UK Limited, trading as Taylor & Francis Group. This is an Accepted Manuscript of an article published by Taylor & Francis in Expert Review of Molecular Diagnostics on 25 August 2016, available online: http://dx.doi.org/10.1080/14737159.2016.1222906
Keywords: Rare disease, next generation sequencing, whole genome sequencing, whole exome sequencing, phenotype, paediatric, mutation, bioinformatics, personalised medicine, network analysis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1514849
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