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dc.contributor.authorPillai, Suja
dc.contributor.authorGopalan, Vinod
dc.contributor.authorLam, Alfred King-Yin
dc.date.accessioned2021-09-21T04:14:33Z
dc.date.available2021-09-21T04:14:33Z
dc.date.issued2017
dc.identifier.issn1879-0461
dc.identifier.doi10.1016/j.critrevonc.2017.05.005
dc.identifier.urihttp://hdl.handle.net/10072/408148
dc.description.abstractGenetic testing is recommended for patients with phaeochromocytoma (PCC) and paraganglioma (PGL) because of their genetic heterogeneity and heritability. Due to the large number of susceptibility genes associated with PCC/PGL, next-generation sequencing (NGS) technology is ideally suited for carrying out genetic screening of these individuals. New generations of DNA sequencing technologies facilitate the development of comprehensive genetic testing in PCC/PGL at a lower cost. Whole-exome sequencing and targeted NGS are the preferred methods for screening of PCC/PGL, both having precise mutation detection methods and low costs. RNA sequencing and DNA methylation studies using NGS technology in PCC/PGL can be adopted to act as diagnostic or prognostic biomarkers as well as in planning targeted epigenetic treatment of patients with PCC/PGL. The designs of NGS having a high depth of coverage and robust analytical pipelines can lead to the successful detection of a wide range of genomic defects in PCC/PGL. Nevertheless, the major challenges of this technology must be addressed before it has practical applications in the clinical diagnostics to fulfill the goal of personalized medicine in PCC/PGL. In future, novel approaches of sequencing, such as third and fourth generation sequencing can alter the workflow, cost, analysis, and interpretation of genomics associated with PCC/PGL.
dc.description.peerreviewedYes
dc.languageEnglish
dc.publisherElsevier
dc.publisher.placeIreland
dc.relation.ispartofpagefrom58
dc.relation.ispartofpageto67
dc.relation.ispartofjournalCritical Reviews in Oncology/Hematology
dc.relation.ispartofvolume116
dc.subject.fieldofresearchCardiovascular medicine and haematology
dc.subject.fieldofresearchCardiovascular medicine and haematology not elsewhere classified
dc.subject.fieldofresearchcode3201
dc.subject.fieldofresearchcode320199
dc.subject.keywordsScience & Technology
dc.subject.keywordsLife Sciences & Biomedicine
dc.subject.keywordsOncology
dc.subject.keywordsHematology
dc.subject.keywordsPhaeochromocytoma
dc.titleReview of sequencing platforms and their applications in phaeochromocytoma and paragangliomas
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationPillai, S; Gopalan, V; Lam, AKY, Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas, Critical Reviews in Oncology/Hematology, 2017, 116, pp. 58-67
dcterms.dateAccepted2017-05-12
dc.date.updated2021-09-21T04:12:57Z
gro.hasfulltextNo Full Text
gro.griffith.authorLam, Alfred K.
gro.griffith.authorGopalan, Vinod
gro.griffith.authorPillai, Suja


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