Understanding exome sequencing: Tips for the pediatrician

Girisha, KM and Lakshmi, Dhanya N (2021) Understanding exome sequencing: Tips for the pediatrician. Indian Pediatrics, 58 (8). pp. 771-774. ISSN 0019-6061

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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.

Item Type: Article
Uncontrolled Keywords: Next-generation sequencing; Sanger sequencing; Targeted gene panel; Monogenic.
Subjects: Medicine > KMC Manipal > Medical Genetics
Depositing User: KMC Library
Date Deposited: 25 Nov 2021 08:47
Last Modified: 12 May 2022 04:48
URI: http://eprints.manipal.edu/id/eprint/157745

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