Pre-Conference Dinner Short Course*
Monday, June 9
4:30 pm Short Course Registration
5:00-8:00 (SC1) Implementing Next-Generation Sequencing for Clinical Diagnostics
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.
Adventures in the Land of Clinical Sequencing: Implementation of Next-Generation Sequencing-Based Tests in a CAP-Regulated Laboratory
Avni B. Santani, Ph.D., Assistant Professor, Clinical Pathology, Perelman School of Medicine, University of Pennsylvania and Scientific Director, Molecular Genetics Lab - Biography
The learning objectives of this presentation include: 1) Outline the strategy geared towards practical implementation of a genomics program in a molecular diagnostic laboratory, 2) Review the development and validation of next-generation sequencing-based tests, including panels and whole-exome sequencing and 3) Examine the impact of implementing NGS-based tests on the clinical laboratory.
Additional Instructors to be Announced
Dinner Short Course*
Wednesday, June 11
6:00 pm-9:00 pm (SC2) Variant Analysis and Contribution to Disease
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.
Using Chromatin Contacts to Create High-Contiguity Genome Assemblies
Joshua N. Burton, Research Scientist, Jay Shendure Laboratory, Genome Sciences, University of Washington - Biography
To study genetics and population variation in any new species, we must first sequence its genome. But de novo genome assemblies created from short next-generation reads are highly fragmented. We have developed a method to create chromosome-scale scaffolds in de novo genome assemblies by exploiting chromatin interaction datasets. Our method is cost-effective, scalable and generalizable to any species.
Detecting Indels and Structural Variants in the Clinical Setting
Kai Ye, Ph.D., Research Assistant Professor, Genetics, The Genome Institute, Washington University - Biography
High-performance analysis tools for short indels and complex structural variants are demanded for clinical applications. Currently medium-sized indels and structural variants are often missed by standard pipelines like GATK but often contribute to disease. Here, the best practices for detecting those missing variants are described.
Extensive Variation in Chromatin States Across Humans
Maya Kasowski, Ph.D., Research Scientist, Mike Snyder Laboratory, Genetics, Stanford University - Biography
The majority of disease-associated variants lie outside protein-coding regions, suggesting a link between variation in regulatory regions and disease predisposition. We studied differences in chromatin states using five histone modifications, cohesin and CTCF in lymphoblastoid lines from 19 individuals of diverse ancestry. We found extensive signal variation in regulatory regions, which often switch between active and repressed states across individuals. Enhancer activity is particularly diverse among individuals, whereas gene expression remains relatively stable. Chromatin variability shows genetic inheritance in trios, correlates with genetic variation and population divergence and is associated with disruptions of transcription factor binding motifs.
* Separate Registration Required