Understanding Exome Sequencing: Tips for the Pediatrician

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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.

Original languageEnglish
Pages (from-to)771-774
Number of pages4
JournalIndian Pediatrics
Issue number8
Publication statusPublished - 08-2021

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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