Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases

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dc.contributor.authorNisar, Haseeb
dc.contributor.authorWajid, Bilal
dc.contributor.authorShahid, Samiah
dc.contributor.authorAnwar, Faria
dc.contributor.authorWajid, Imran
dc.contributor.authorKhatoon, Asia
dc.contributor.authorSattar, Mian Usman
dc.contributor.authorSadaf, Saima
dc.date.accessioned2022-01-27T12:21:04Z
dc.date.available2022-01-27T12:21:04Z
dc.date.issued2021en_US
dc.departmentEnstitüler, Sosyal Bilimler Enstitüsü, Eğitim Yönetimi Ana Bilim Dalıen_US
dc.description.abstractRare 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.en_US
dc.identifier.doi10.1177/15353702211040046en_US
dc.identifier.endpage2617en_US
dc.identifier.issue24en_US
dc.identifier.pmid34521224en_US
dc.identifier.scopus2-s2.0-85115106696en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage2610en_US
dc.identifier.urihttps://hdl.handle.net/11467/5166
dc.identifier.urihttps://doi.org/10.1177/15353702211040046
dc.identifier.volume246en_US
dc.identifier.wosWOS:000696049200001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSageen_US
dc.relation.ispartofExperimental Biology and Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - İdari Personel ve Öğrencien_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectRare genetic diseaseen_US
dc.subjectwhole genome sequencingen_US
dc.subjectwhole-exome sequencingen_US
dc.subjectPrecision medicineen_US
dc.subjectNext generation sequencingen_US
dc.subjectNational health systemsen_US
dc.titleWhole-genome sequencing as a first-tier diagnostic framework for rare genetic diseasesen_US
dc.typeArticleen_US

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