The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.

Abstract:

:In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and the complexity of interpreting genomic variants relevant to patient phenotypic features. This article briefly explains the technology by which genomes are sequenced and discusses some of the complexity related to interpreting genomic variants. We conclude with some thoughts on the clinical applications of such testing.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Thiffault I,Lantos J

doi

10.1542/peds.2015-3731C

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

S3-7

eissn

0031-4005

issn

1098-4275

pii

peds.2015-3731C

journal_volume

137 Suppl 1

pub_type

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