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Article

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

Expert review of molecular diagnostics - 1 Oct 2016

Bacchelli Chiara, Williams Hywel J

Abstract excerpt

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...

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Identifiers

PMID: 27560481
DOI: 10.1080/14737159.2016.1222906

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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