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Understanding Exome Sequencing: Tips for the Pediatrician
Dhanya Lakshmi Narayanan1, Katta Mohan Girisha2
1Department of Medical Genetics, Kasturba Medical College, (Manipal Academy of Higher Education), Manipal, India.
Abstract:
Exome sequencing is gaining popularity as a genomic test for the diagnosis of Mendelian disorders in children. It is essential for pediatricians to familiarize themselves with this technique and its interpretation. This brief review discusses some of the key components of a clinical or research report on exome sequencing for a practicing pediatrician, so as to enable them to utilize this test well and provide timely referrals to a clinical geneticist.
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