Sequencing a genome is only the beginning. Several layers of analysis are necessary to convert raw sequence data into an understanding of functional biology. First, error sources in the original raw data from multiple platforms and diverse applications must be accounted for. Then, as computational methods for assembly, alignment and variation detection continue to advance, a broad range of genetic analysis applications including comparative genomics, high-throughput polymorphism detection, analysis of coding and non-coding RNAs and identifying mutant genes in disease pathways can be addressed. CHI’s Sequencing Data Analysis and Interpretation conference combines unique perspectives from a variety of researchers, engineers, biostatisticians and software developers involved in NGS data analysis.
 

Day 1 | Day 2 

Tuesday, August 20

12:00 pm Main Conference Registration

12:30 Luncheon Technology Workshop (Sponsorship Opportunity Available)

» Plenary Keynote Session

2:00 Chairperson's Opening Remarks

2:15 RNA is Everywhere: Characterizing the Spectra and Flux of RNA in Mammalian Circulation

David Galas, Ph.D., Principal Scientist, Pacific Northwest Diabetes Research Institute  Biography 

The discovery of foreign RNA in blood and tissues of humans and mice raises many questions, including its origins, the mechanisms of its transport and stability and what, if any, functions it has. I will discuss what we know about circulating exRNA in human plasma and the use of NGS in the exploration of this new area of investigation in biology and medicine.

3:00 Genomics and the Single Cell

Sherman Weissman, Ph.D., Sterling Professor of Genetics and Medicine, Yale University School of Medicine  Biography 

Studies of single cells are being approached by widely different methods, principally either florescence microscopy including super-high resolution methods, cloning and expansion of single cells or most generally applicable, genomic-scale nucleic acid analyses. The last includes single-cell DNA sequence analysis, gene expression analysis and most recently analyses of telomere length, DNA methylation and potentially closed regions of chromatin. Also, in the near future, it may be possible to combine several analyses of a single cell, including mRNA expression, genomic DNA methylation and protein secretion. These approaches will have major value for diverse fields, including molecular analysis of the early stages of development, the nature and heterogeneity of stem cells and transient repopulating cells in various systems including the hematopoietic system, the nature and extent of heterogeneity of neurons, heterogeneity in neoplasia and in functional subsets of cells of the immune system. A substantial experimental challenge is to distinguish technical variation from stochastic and deterministic events in single cells. Another, broader challenge is to correlate the results of genomic properties that necessarily involve destruction of the cell with the functional properties and potential of the individual cell being analyzed. These issues will be discussed briefly in the presentation.

3:45 Refreshment Break in the Exhibit Hall with Poster Viewing

4:30 Genome Hacking

Yaniv Erlich, Ph.D., Principal Investigator, Whitehead Fellow, Whitehead Institute for Biomedical Research  Biography 

Sharing sequencing datasets without identifiers has become a common practice in genomics. We developed a technique that uses entirely free, publicly accessible Internet resources to fully identify individuals in these studies. I will present quantitative analysis about the probability of identifying U.S. individuals by this technique. In addition, I will demonstrate the power of our approach by tracing back the identities of multiple whole-genome datasets in public sequencing repositories.

5:15 Panel Discussion with Plenary Keynote Speakers

5:45 Short Course Registration

Day 1 | Day 2