scholarly journals Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening ofCFTR

2015 ◽  
Vol 3 (5) ◽  
pp. 396-403 ◽  
Author(s):  
Daniel Trujillano ◽  
Maximilian E. R. Weiss ◽  
Julia Köster ◽  
Efstathios B. Papachristos ◽  
Martin Werber ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Screening ◽  
Next Generation ◽  
Clinical Genetic ◽  
Generation Sequencing

scholarly journals Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma

2013 ◽  
Vol 2 (2) ◽  
pp. 104-111 ◽  
Author(s):  
Joakim Crona ◽  
Alberto Delgado Verdugo ◽  
Dan Granberg ◽  
Staffan Welin ◽  
Peter Stålberg ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Screening ◽  
Bioinformatics Analysis ◽  
Cost Effective ◽  
Susceptibility Genes ◽  
Next Generation ◽  
Clinical Genetic ◽  
Cost Effective Method ◽  
Agilent Sureselect ◽  
Generation Sequencing

BackgroundRecent findings have shown that up to 60% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are caused by germline or somatic mutations in one of the 11 hitherto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, HIF2A (EPAS1), RET, NF1, TMEM127 and MAX. This list of genes is constantly growing and the 11 genes together consist of 144 exons. A genetic screening test is extensively time consuming and expensive. Hence, we introduce next-generation sequencing (NGS) as a time-efficient and cost-effective alternative.MethodsTumour lesions from three patients with apparently sporadic PCC were subjected to whole exome sequencing utilizing Agilent Sureselect target enrichment system and Illumina Hi seq platform. Bioinformatics analysis was performed in-house using commercially available software. Variants in PCC and PGL susceptibility genes were identified.ResultsWe have identified 16 unique genetic variants in PCC susceptibility loci in three different PCC, spending less than a 30-min hands-on, in-house time. Two patients had one unique variant each that was classified as probably and possibly pathogenic: NF1 Arg304Ter and RET Tyr791Phe. The RET variant was verified by Sanger sequencing.ConclusionsNGS can serve as a fast and cost-effective method in the clinical genetic screening of PCC. The bioinformatics analysis may be performed without expert skills. We identified process optimization, characterization of unknown variants and determination of additive effects of multiple variants as key issues to be addressed by future studies.

scholarly journals Next-generation sequencing for endocrine cancers: Recent advances and challenges

Tumor Biology ◽  
2017 ◽  
Vol 39 (5) ◽  
pp. 101042831769837 ◽  
Author(s):  
Padmanaban S Suresh ◽  
Thejaswini Venkatesh ◽  
Rie Tsutsumi ◽  
Abhishek Shetty
Keyword(s):  
Next Generation Sequencing ◽  
Drug Targets ◽  
Current View ◽  
Endocrine Tumors ◽  
Next Generation ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Recent Advances ◽  
Microarray Analyses ◽  
Generation Sequencing

Contemporary molecular biology research tools have enriched numerous areas of biomedical research that address challenging diseases, including endocrine cancers (pituitary, thyroid, parathyroid, adrenal, testicular, ovarian, and neuroendocrine cancers). These tools have placed several intriguing clues before the scientific community. Endocrine cancers pose a major challenge in health care and research despite considerable attempts by researchers to understand their etiology. Microarray analyses have provided gene signatures from many cells, tissues, and organs that can differentiate healthy states from diseased ones, and even show patterns that correlate with stages of a disease. Microarray data can also elucidate the responses of endocrine tumors to therapeutic treatments. The rapid progress in next-generation sequencing methods has overcome many of the initial challenges of these technologies, and their advantages over microarray techniques have enabled them to emerge as valuable aids for clinical research applications (prognosis, identification of drug targets, etc.). A comprehensive review describing the recent advances in next-generation sequencing methods and their application in the evaluation of endocrine and endocrine-related cancers is lacking. The main purpose of this review is to illustrate the concepts that collectively constitute our current view of the possibilities offered by next-generation sequencing technological platforms, challenges to relevant applications, and perspectives on the future of clinical genetic testing of patients with endocrine tumors. We focus on recent discoveries in the use of next-generation sequencing methods for clinical diagnosis of endocrine tumors in patients and conclude with a discussion on persisting challenges and future objectives.

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