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
Gene Testing; Genetic Predisposition to Disease
Recommended Citation
Thiffault I, Lantos J. The Challenge of Analyzing the Results of Next-Generation Sequencing in Children. Pediatrics. 2016;137 Suppl 1:S3-S7. doi:10.1542/peds.2015-3731C
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Genomics Commons, Medical Genetics Commons, Other Genetics and Genomics Commons, Pediatrics Commons
