Understanding Exome Sequencing: Tips for the Pediatrician

Dhanya Lakshmi Narayanan; Katta Mohan Girisha

doi:10.1007/s13312-021-2289-0

Understanding Exome Sequencing: Tips for the Pediatrician

Dhanya Lakshmi Narayanan
, Katta Mohan Girisha^*

^*Corresponding author for this work

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

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.

Original language	English
Pages (from-to)	771-774
Number of pages	4
Journal	Indian Pediatrics
Volume	58
Issue number	8
DOIs	https://doi.org/10.1007/s13312-021-2289-0
Publication status	Published - 08-2021

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1007/s13312-021-2289-0

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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.",

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AB - 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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Understanding Exome Sequencing: Tips for the Pediatrician

Abstract

All Science Journal Classification (ASJC) codes

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