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- W2038256821 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." @default.
- W2038256821 created "2016-06-24" @default.
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- W2038256821 date "2014-01-01" @default.
- W2038256821 modified "2023-10-01" @default.
- W2038256821 title "Whole-exome sequencing: opportunities in pediatric endocrinology" @default.
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- W2038256821 doi "https://doi.org/10.2217/pme.13.96" @default.
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