Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases
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Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Sage
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Rare diseases affect nearly 300 million people globally with most patients aged five or less. Traditional diagnostic approaches have provided much of the diagnosis; however, there are limitations. For instance, simply inadequate and untimely diagnosis adversely affects both the patient and their families. This review advocates the use of whole genome sequencing in clinical settings for diagnosis of rare genetic diseases by showcasing five case studies. These examples specifically describe the utilization of whole genome sequencing, which helped in providing relief to patients via correct diagnosis followed by use of precision medicine.
Açıklama
Anahtar Kelimeler
Rare genetic disease, whole genome sequencing, whole-exome sequencing, Precision medicine, Next generation sequencing, National health systems
Kaynak
Experimental Biology and Medicine
WoS Q Değeri
Q3
Scopus Q Değeri
N/A
Cilt
246
Sayı
24
