Pre-Conference Short Courses*
Monday, June 9
1:30 pm Short Course Registration
2:00-5:30 (SCa) Hadoop and High-Dimensional Data Mining in the Era of the Clinical Genome - Detailed Agenda
The exponential decline in the cost of next generation sequencing is making it possible to discover rare genetic variants that may explain rare childhood diseases and cancer. To detect these rare variants requires the aggregation and analysis of genomics and clinical data at scale. Meanwhile, the advent of Hadoop, a programming framework that supports the processing of large data sets in a distributed computing environment, is driving the re-thinking and re-design of traditional data mining approaches. During this short course, we will briefly review key Hadoop concepts, and highlight how Hadoop makes novel data mining applications possible. Session speakers will share novel data mining strategies and approaches such as topological data analysis (TDA) and massively parallel database processing to perform a spectrum of genomic and clinical analyses.
4:30 Short Course Registration
5:00-5:30 Shared Dinner Buffet
5:00-8:30 (SC1) Implementing Next-Generation Sequencing for Clinical Diagnostics - Detailed Agenda
The rapid evolution of next-generation sequencing and the resulting move into routine clinical practice requires arguably as much skill in navigating through new unchartered territories of clinical testing as the sequence generation, bioinformatics and interpretation of variants. Significant challenges for clinical diagnostics include the rapid evolution of platforms, protocols, kits and reagents as well as genome analysis, interpretation and ethics. This short course provides practical information on implementing clinical sequencing, genomic data analysis and interpretation, ethics and proficiency testing.
Dinner Short Course*
Wednesday, June 11
5:30 pm Dinner Short Course Registration
6:00-9:00 (SC2) Variant Analysis and Contribution to Disease - Detailed Agenda
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. In this course you will explore genetic data science, an emergent discipline that seeks to deliver better answers from the data so that patients and their physicians can determine informed healthcare decisions.
* Separate Registration Required