Document Type

Article

Publication Date

1-1-2016

Identifier

DOI: 10.1542/peds.2015-3731C

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 Title

Pediatrics

Volume

137 Suppl 1

First Page

3

Last Page

7

MeSH Keywords

Child; Exome; Genetic Predisposition to Disease; Genetic Testing; Genome, Human; High-Throughput Nucleotide Sequencing; Humans; Sequence Analysis, DNA

Keywords

Children; Gene Testing

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