Track 5 Next-Gen Sequencing Informatics: Advances in Analysis and Interpretation of NGS Data @ BioIT World, April 29 – May 1, 2014 Seaport World Trade Center, Boston, MA
Reporter: Aviva Lev-Ari, PhD, RN
NGS Bioinformatics Marketplace: Emerging Trends and Predictions
10:50 Chairperson’s Remarks
Narges Baniasadi, Ph.D., Founder & CEO, Bina Technologies, Inc.
11:00 Global Next-Generation Sequencing Informatics Markets: Inflated Expectations in an Emerging Market
Greg Caressi, Senior Vice President, Healthcare and Life Sciences, Frost & Sullivan
This presentation evaluates the global next-generation sequencing (NGS) informatics markets from 2012 to 2018. Learn key market drivers and restraints,
key highlights for many of the leading NGS informatics services providers and vendors, revenue forecasts, and the important trends and predictions that
affect market growth.
Organizational Approaches to NGS Informatics
11:30 High-Performance Databases to Manage and Analyze NGS Data
Joseph Szustakowski, Ph.D., Head, Bioinformatics, Biomarker Development,
Novartis Institutes for Biomedical Research
The size, scale, and complexity of NGS data sets call for new data management and analysis strategies. High-performance database systems
combine the advantages of both established and cutting edge technologies. We are using high performance database systems to manage and analyze NGS, clinical, pathway, and phenotypic data with great success. We will describe our approach and concrete success stories that demonstrate its efficiency and effectiveness.
12:00 pm Taming Big Science Data Growth with Converged Infrastructure
Aaron D. Gardner, Senior Scientific Consultant,
BioTeam, Inc.
Many of the largest NGS sites have identified IO bottlenecks as their number one concern in growing their infrastructure to support current and projected
data growth rates. In this talk Aaron D. Gardner, Senior Scientific Consultant, BioTeam, Inc. will share real-world strategies and implementation details
for building converged storage infrastructure to support the performance, scalability and collaborative requirements of today’s NGS workflows.
12:15 Next Generation Sequencing: Workflow Overview from a High-Performance Computing Point of View
Carlos P. Sosa, Ph.D., Applications Engineer, HPC Lead,
Cray, Inc.
Next Generation Sequencing (NGS) allows for the analysis of genetic material with unprecedented speed and efficiency. NGS increasingly shifts the burden
from chemistry done in a laboratory to a string manipulation problem, well suited to High- Performance Computing. We explore the impact of the NGS
workflow in the design of IT infrastructures. We also present Cray’s most recent solutions for NGS workflow.
SOSA in REAL TIME
Bioinformatics and BIG DATA – NGS @ CRAY i 2014
I/O moving, storage data – UNIFIED solution by Cray
- Data access
- Fast Access
- Storage
- manage high performance computinf; NGS work flow, multiple human genomes 61 then 240 sequentiallt, with high performance in 51 hours, 140 genomes in simultaneous
Architecture @Cray for Genomics
- sequensors
- Galaxy
- servers for analysis
- workstation: Illumina, galaxy, CRAY does the integration of 3rd party SW using a workflow LEVERAGING the network, the fastest in the World, network useding NPI for scaling and i/O
- Compute blades, reserves formI?O nodes, the Fastest interconnet in the industry
- scale of capacity and capability, link interconnect in the file System: lustre
- optimization of bottle neck: capability, capacity, file structure for super fast I/O
12:40 Luncheon Presentation I
Erasing the Data Analysis Bottleneck with BaseSpace
Jordan Stockton, Ph.D., Marketing Director,
Enterprise Informatics, Illumina, Inc.
Since the inception of next generation sequencing, great attention has been paid to challenges such as storage, alignment, and variant calling. We believe
that this narrow focus has distracted many biologists from higher-level scientific goals, and that simplifying this process will expedite the discovery
process in the field of applied genomics. In this talk we will show that applications in BaseSpace can empower a new class of researcher to go from
sample to answer quickly, and can allow software developers to make their tools accessible to a vast and receptive audience.
1:10 Luncheon Presentation II: Sponsored by
The Empowered Genome Community: First Insights from Shareable Joint Interpretation of Personal Genomes for Research
Nathan Pearson, Ph.D. Principal Genome Scientist,
QIAGEN
Genome sequencing is becoming prevalent however understanding each genome requires comparing many genomes. We launched the Empowered Genome Community, consisting of people from programs such as the Personal Genome Project (PGP) and Illumina’s Understand Your Genome. Using Ingenuity Variant Analysis, members have identified proof of principle insights on a common complex disease (here,myopia) derived by open collaborative analysis of PGP genomes.
Pearson in REAL TIME
One Genome vs. population of Genomes
IF one Genome:
- ancestry
- family health
- less about drug and mirrors
- health is complex
CHallenges
1. mine genome
2. what all genome swill do for Humanity not what my genome can do for me
3. Cohort analysis, rich for variance
4. Ingenuity Variant Analysis – secure environment
5. comparison of genomes, a sequence, reference matching
6. phynogenum, statistical analysis as Population geneticists do
Open, collabrative myopia analysis GENES rare leading to myuopia – 111 genomes
– first-pass finding highlight 12 plausibly myopia-relevant genes: variants in cases vs control
– refine finding and analysis, statistical association, common variance
This is very insightful. There is no doubt that there is the bias you refer to. 42 years ago, when I was postdocing in biochemistry/enzymology before completing my residency in pathology, I knew that there were very influential mambers of the faculty, who also had large programs, and attracted exceptional students. My mentor, it was said (although he was a great writer), could draft a project on toilet paper and call the NIH. It can’t be true, but it was a time in our history preceding a great explosion. It is bizarre for me to read now about eNOS and iNOS, and about CaMKII-á, â, ã, ä – isoenzymes. They were overlooked during the search for the genome, so intermediary metabolism took a back seat. But the work on protein conformation, and on the mechanism of action of enzymes and ligand and coenzyme was just out there, and became more important with the research on signaling pathways. The work on the mechanism of pyridine nucleotide isoenzymes preceded the work by Burton Sobel on the MB isoenzyme in heart. The Vietnam War cut into the funding, and it has actually declined linearly since.
A few years later, I was an Associate Professor at a new Medical School and I submitted a proposal that was reviewed by the Chairman of Pharmacology, who was a former Director of NSF. He thought it was good enough. I was a pathologist and it went to a Biochemistry Review Committee. It was approved, but not funded. The verdict was that I would not be able to carry out the studies needed, and they would have approached it differently. A thousand young investigators are out there now with similar letters. I was told that the Department Chairmen have to build up their faculty. It’s harder now than then. So I filed for and received 3 patents based on my work at the suggestion of my brother-in-law. When I took it to Boehringer-Mannheim, they were actually clueless.