Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases.
Rare genetic disease
national health systems
next generation sequencing
precision medicine
whole genome sequencing
whole-exome sequencing
Journal
Experimental biology and medicine (Maywood, N.J.)
ISSN: 1535-3699
Titre abrégé: Exp Biol Med (Maywood)
Pays: England
ID NLM: 100973463
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
pubmed:
16
9
2021
medline:
17
12
2021
entrez:
15
9
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34521224
doi: 10.1177/15353702211040046
pmc: PMC8669166
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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