Understanding Exome Sequencing: Tips for the Pediatrician
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 rese...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Narayanan, Dhanya Lakshmi [verfasserIn] Girisha, Katta Mohan [verfasserIn] |
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E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Schlagwörter: |
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| Anmerkung: |
© Indian Academy of Pediatrics 2021 |
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| Übergeordnetes Werk: |
Enthalten in: Indian Pediatrics - Springer-Verlag, 2010, 58(2021), 8 vom: 02. Jan., Seite 771-774 |
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| Übergeordnetes Werk: |
volume:58 ; year:2021 ; number:8 ; day:02 ; month:01 ; pages:771-774 |
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| DOI / URN: |
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. © Indian Academy of Pediatrics 2021 |
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