title: 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.
authors.affiliation: Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, Missouri; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri; and.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Thiffault
authors.affiliation: Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, Missouri; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri jlantos@cmh.edu.
authors.forename: John
authors.initials: J
authors.lastname: Lantos
mesh_terms: D002648:Child; D059472:Exome / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D017422:Sequence Analysis, DNA