Whole-exome sequencing: opportunities in pediatric endocrinology

Personalized Medicine
Mark E SamuelsGuy Van Vliet

Abstract

Pediatric endocrinology services see a wide variety of patients with diverse clinical symptoms, including disorders of growth, metabolism, bone and sexual development. Molecular diagnosis plays an important role in this branch of medicine. Traditional PCR-based Sanger sequencing is a mainstay format for molecular testing in pediatric cases despite its relatively high cost, but the large number of gene defects associated with the various endocrine disorders renders gene-by-gene testing increasingly unattractive. Using new high-throughput sequencing technologies, whole genomes, whole exomes or candidate-gene panels (targeted gene sequencing) can now be cost-effectively sequenced for endocrine patients. Based on our own recent experiences with exome sequencing in a research context, we describe the general clinical ascertainment of relevant pediatric endocrine patients, compare different formats for next-generation sequencing and provide examples. Our view is that protocols involving next-generation sequencing should now be considered as an appropriate component of routine clinical diagnosis for relevant patients.

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Methods Mentioned

BETA
exome sequencing
single-gene sequencing
hybrid-capture
PCR

Software Mentioned

BWA
ANNOVAR
PolyPhen2
MutationTaster
WES
SAMTools
SIFT

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