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.
137 Suppl 1
Child; Exome; Genetic Predisposition to Disease; Genetic Testing; Genome, Human; High-Throughput Nucleotide Sequencing; Humans; Sequence Analysis, DNA
Gene Testing; Genetic Predisposition to Disease
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