Leaders in Pharmaceutical Business Intelligence (LPBI) Group

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:

1. ancestry
2. family health
3. less about drug and mirrors
4. 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