dc.contributor.author | Pillai, Suja | |
dc.contributor.author | Gopalan, Vinod | |
dc.contributor.author | Lam, Alfred King-Yin | |
dc.date.accessioned | 2021-09-21T04:14:33Z | |
dc.date.available | 2021-09-21T04:14:33Z | |
dc.date.issued | 2017 | |
dc.identifier.issn | 1879-0461 | |
dc.identifier.doi | 10.1016/j.critrevonc.2017.05.005 | |
dc.identifier.uri | http://hdl.handle.net/10072/408148 | |
dc.description.abstract | Genetic 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.peerreviewed | Yes | |
dc.language | English | |
dc.publisher | Elsevier | |
dc.publisher.place | Ireland | |
dc.relation.ispartofpagefrom | 58 | |
dc.relation.ispartofpageto | 67 | |
dc.relation.ispartofjournal | Critical Reviews in Oncology/Hematology | |
dc.relation.ispartofvolume | 116 | |
dc.subject.fieldofresearch | Cardiovascular medicine and haematology | |
dc.subject.fieldofresearch | Cardiovascular medicine and haematology not elsewhere classified | |
dc.subject.fieldofresearchcode | 3201 | |
dc.subject.fieldofresearchcode | 320199 | |
dc.subject.keywords | Science & Technology | |
dc.subject.keywords | Life Sciences & Biomedicine | |
dc.subject.keywords | Oncology | |
dc.subject.keywords | Hematology | |
dc.subject.keywords | Phaeochromocytoma | |
dc.title | Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas | |
dc.type | Journal article | |
dc.type.description | C1 - Articles | |
dcterms.bibliographicCitation | Pillai, 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.dateAccepted | 2017-05-12 | |
dc.date.updated | 2021-09-21T04:12:57Z | |
gro.hasfulltext | No Full Text | |
gro.griffith.author | Lam, Alfred K. | |
gro.griffith.author | Gopalan, Vinod | |
gro.griffith.author | Pillai, Suja | |