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Functional genomics for curation of variants in telomere biology disorder associated genes: a systematic review

Patients with an underlying telomere biology disorder (TBD) have variable clinical presentations, and they can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatment. Unfortunately, many variants identified during diagnostic testing...

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Hauptverfasser: Nelson, Niles (VerfasserIn) , Feurstein, Simone (VerfasserIn) , Niaz, Aram (VerfasserIn) , Truong, Jia (VerfasserIn) , Holien, Jessica K. (VerfasserIn) , Lucas, Sionne (VerfasserIn) , Fairfax, Kirsten (VerfasserIn) , Dickinson, Joanne (VerfasserIn) , Bryan, Tracy M. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: March 2023
In: Genetics in medicine
Year: 2023, Jahrgang: 25, Heft: 3, Pages: 1-18
ISSN:1530-0366
DOI:10.1016/j.gim.2022.11.021
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.gim.2022.11.021
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022010590
Volltext
Verfasserangaben:Niles Nelson, Simone Feurstein, Aram Niaz, Jia Truong, Jessica K. Holien, Sionne Lucas, Kirsten Fairfax, Joanne Dickinson, Tracy M. Bryan
Beschreibung
Zusammenfassung:Patients with an underlying telomere biology disorder (TBD) have variable clinical presentations, and they can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatment. Unfortunately, many variants identified during diagnostic testing are variants of uncertain significance. This complicates management decisions, delays treatment, and risks nonuptake of potentially curative therapies. Improved application of functional genomic evidence may reduce variants of uncertain significance classifications.
Beschreibung:Online veröffentlicht am 7. Dezember 2022, Artikelversion vom 20. Januar 2023
Gesehen am 22.11.2023
Beschreibung:Online Resource
ISSN:1530-0366
DOI:10.1016/j.gim.2022.11.021

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