TY - JOUR
T1 - Understanding Exome Sequencing
T2 - Tips for the Pediatrician
AU - Narayanan, Dhanya Lakshmi
AU - Girisha, Katta Mohan
N1 - Publisher Copyright:
© 2021, Indian Academy of Pediatrics.
PY - 2021/8
Y1 - 2021/8
N2 - 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.
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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U2 - 10.1007/s13312-021-2289-0
DO - 10.1007/s13312-021-2289-0
M3 - Article
C2 - 33634792
AN - SCOPUS:85113408232
SN - 0019-6061
VL - 58
SP - 771
EP - 774
JO - Indian Pediatrics
JF - Indian Pediatrics
IS - 8
ER -