By a News Reporter-Staff News Editor at Biotech Business Week -- Fresh data on Health and Medicine are presented in a new report. According to news reporting from Woolloongabba, Australia, by NewsRx journalists, research stated, "Genetic testing is recommended when the probability of a disease-associated germline mutation exceeds 10%. Germline mutations are found in approximately 25% of individuals with phaeochromcytoma (PCC) or paraganglioma (PGL); however, genetic heterogeneity for PCC/PGL means many genes may require sequencing."
The news correspondents obtained a quote from the research from the University of Queensland, "A phenotype-directed iterative approach may limit costs but may also delay diagnosis, and will not detect mutations in genes not previously associated with PCC/PGL. To assess whether whole exome sequencing (WES) was efficient and sensitive for mutation detection in PCC/PGL. Whole exome sequencing was performed on blinded samples from eleven individuals with PCC/PGL and known mutations. Illumina TruSeq (Illumina Inc, San Diego, CA, USA) was used for exome capture of seven samples, and NimbleGen SeqCap EZ v3.0 (Roche NimbleGen Inc, Basel, Switzerland) for five samples (one sample was repeated). Massive parallel sequencing was performed on multiplexed samples. Sequencing data were called using Genome Analysis Toolkit and annotated using annovar. Data were assessed for coding variants in RET, NF1, VHL, SDHD, SDHB, SDHC, SDHA, SDHAF2, KIF1B, TMEM127, EGLN1 and MAX. Target capture of five exome capture platforms was compared. Six of seven mutations were detected using Illumina TruSeq exome capture. All five mutations were detected using NimbleGen SeqCap EZ v3.0 platform, including the mutation missed using Illumina TruSeq capture. Target capture for exons in known PCC/PGL genes differs substantially between platforms. Exome sequencing was inexpensive ($A800 per sample for reagents) and rapid (results
According to the news reporters, the research concluded: "However, capture platform selection is critical to maximize sensitivity."
For more information on this research see: Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 2014;80(1):25-33. (Wiley-Blackwell - www.wiley.com/; Clinical Endocrinology - onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2265)
Our news journalists report that additional information may be obtained by contacting A.M. McInerney-Leo, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia. Additional authors for this research include M.S. Marshall, B. Gardiner, D.E. Benn, J. McFarlane, B.G. Robinson, M.A. Brown, P.J. Leo, R.J. Clifton-Bligh and E.L Duncan (see also Health and Medicine).
Keywords for this news article include: Genetics, Woolloongabba, Health and Medicine, Biotechnology Companies, Australia and New Zealand.
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