Cambridge Healthtech Institute’s Extracellular Biomarkers Summit (March 16-18, 2015 in Cambridge, MA) will provide timely coverage through four dedicated tracks: microRNA as Biomarkers and Diagnostics, Long Non-Coding RNA in Cancer, Exosomes and Microvesi

Cambridge Healthtech Institute’s 11th Annual microRNA as Biomarkers and Diagnostics Conference (March 16-17, 2015 in Cambridge, MA) will cover the latest developments in the use of microRNA in the early detection of disease for more effective treatment, m

Cambridge Healthtech Institute’s Second Annual Exosomes and Microvesicles as Biomarkers and Diagnostics Conference (March 16-17, 2015 in Cambridge, MA) will cover recent advances in the understanding of their biology, detection and profiling technologies,

Next generation sequencing (NGS) has revolutionized genomics and is now on the verge of being widely adopted for medical sequencing. Until recently, comprehensive genetic testing for genetically heterogeneous diseases was limited by the high cost of traditional (Sanger) sequencing technology. NGS technologies have now completely eliminated this limit such that virtually any gene with a published association to the disease of interest can be tested. Whole exome or whole genome sequencing (WES/WGS) is the ultimate genetic test and many success stories provide a taste of its power. However, while the cost of generating high-quality whole genome sequence data is rapidly dropping, analysis of the enormous number of variants detected is still too complex to implement WGS/WES as a first line genetic test. Targeted NGS-based gene panels are typically an order of magnitude smaller than WES/WGS based testing but follow the same principles. Screening large sets of genes is particularly useful when the clinical diagnosis is uncertain as it eliminates the need for costly and lengthy cascade testing that has dominated genetic testing in the past. Drawbacks are significantly increased numbers of detected variants, which poses novel challenges for post-analytic data analyses. The focus of this short course is on understanding the use of NGS in clinical diagnosis, practical implementation of NGS in clinical laboratories and analysis of large data sets by using bioinformatics tools to parse and interpret data in relation to the clinical phenotype. The concluding presentation is dedicated to quality and standardization of NGS assays.

The course provides important insights for overcoming challenges of working with FFPE samples for cancer research such as detecting RNA and profiling miRNA expression. Next generation sequencing (NGS) utilizes FFPE samples for clinical retrospective studies. Successful interpretation of the samples depends on the quality of the starting material.

Advances in NGS have provided unprecedented opportunities to mine genetic data from individuals to populations. The subsequent identification of genetic variants which may be implicated in disease is an important step in linking sequence data with disease and provides new approaches to improve human health. This course will explore the strategies of genomic data analysis and interpretation, an emergent discipline that seeks to deliver better answers from NGS data so that patients and their physicians can determine informed healthcare decisions.