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Whole-exome Sequencing: Opportunities in Pediatric Endocrinology

Personalized Medicine, 2014
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 ...
Caroline Hasselmann +4 more
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Bioinformatics Analysis of Whole Exome Sequencing Data

2018
This chapter contains a step-by-step protocol for identifying somatic SNPs and small Indels from next-generation sequencing data of tumor samples and matching normal samples. The workflow presented here is largely based on the Broad Institute's "Best Practices" guidelines and makes use of their Genome Analysis Toolkit (GATK) platform.
Weisheng Wu, Chris Gates, Peter J. Ulintz +2 more
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Whole exome sequencing of esophageal cancer

2013
Whole exome sequencing of esophageal ...
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Whole-exome sequencing and whole-genome sequencing

2020
Hui Wang, Rui Chen
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Changing the game with whole exome sequencing

Clinical Genetics, 2011
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Dysmorphology in the era of whole exome sequencing

Current Opinion in Pediatrics, 2011
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Applications of next-generation whole exome sequencing