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
Pediatricsjournal_title
Pediatricsauthors
Thiffault I,Lantos Jdoi
10.1542/peds.2015-3731Csubject
Has Abstractpub_date
2016-01-01 00:00:00pages
S3-7eissn
0031-4005issn
1098-4275pii
peds.2015-3731Cjournal_volume
137 Suppl 1pub_type
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