Sneak Peak: ABRF and Software Systems for Clinical Research

The Association for Biomedical Research Facilities conference begins this weekend (2/19) with workshops on Saturday and sessions Sunday through Tuesday.  This year's theme is: Technologies to Enable Personalized Medicine, and appropriately a team from Geospiza will be there at our booth and participating in scientific sessions. 

I will be presenting a poster entitled, "Clinical Systems for Cancer Research" (abstract below). In addition to great science and technology ABRF has a large number of tweeting participants including @finchtalk. You can follow along using the #ABRF and (or) #ABRF2011.  

Abstract

By the end of 2011 we will likely know the DNA sequences for 30,000 human genomes. However, to truly understand how the variation between these genomes affect phenotype at a molecular level, future research projects need to analyze these genomes in conjunction with data from multiple ultra-high throughput assays obtained from large sample populations. In cancer research, for example, studies that examine 1000s of specific tumors in 1000s of patients are needed to fully characterize the more than 10,000 types and subtypes of cancer and develop diagnostic biomarkers. These studies will use high throughput DNA sequencing to characterize tumor genomes and their transcriptomes. Sequencing results will be validated with non-sequencing technologies and putative biomarkers will be examined in large populations using rapid targeted assay approaches.

Geospiza is transforming the above scenario from vision into reality in several ways. The Company’s GeneSifter platform utilizes scalable data management technologies based on open-source HDF5 and BioHDF technologies to capture, integrate, and mine raw data and analysis results from DNA, RNA, and other high-throughput assays. Analysis results are integrated and linked to multiple repositories of information that include variation, expression, pathway, and ontology databases to enable discovery process and support verification assays. Using this platform and RNA-Sequencing and Genomic DNA sequencing from matched tumor/normal samples, we were able to characterize differential gene expression, differential splicing, allele specific expression, RNA editing, somatic mutations and genomic rearrangements as well as validate these observations in a set of patients with oral and other cancers.

By: Todd Smith (1), N. Eric Olson (1), Rebecca Laborde (3), Christopher E Mason (2), David Smith (3):  (1) Geospiza, Inc., Seattle WA. (2) Weil Cornell Medical College, NY NY.(3) Mayo Clinic, Rochester MN.

Variant Analysis and Sequencing Labs

Yesterday and two weeks ago, Geospiza released two important news items.  The first announced PerkinElmer's section of the GeneSifter® Lab and Analysis systems to support their new DNA sequencing service. The second was an announcement of our new SBIR award to improve variant detection software.

Why are these important?

The PerkinElmer news is another validation of the fact that software systems need to integrate laboratory operations and scientific data analysis in ways that go deeper than sending computing jobs to a server (links below).  To remain competitive, service labs can no longer satisfy customer needs by simply delivering data. They must deliver a unit of information that is consistent with the experiment, or assay, that is being conducted by their clients.  PerkinElmer recognizes this fact along with our many other customers who participate in our partner program and work with our LIMS (GSLE) and Analysis (GSAE) systems to support their clients doing Sanger sequencing, Next Gen sequencing, or microarray analysis.

The SBIR news communicates our path toward making the units of information that go with whole genome sequencing, targeted sequencing, exome sequencing, allele analysis, and transcriptome sequencing as rich as possible. Through the project, we will add new applications to our analysis capabilities that solve the three fundamental problems related to data quality analysis, information integration, and the user experience.

• Through advanced data quality analysis we can address the question, if we see a variant, can we understand wether the difference is random noise, a systematic error, or biological signal? 
• Information integration will help scientists and clinical researchers quickly add biological context to their data. 
• New visualization and annotation interfaces will help individuals explore the high-dimensional datasets resulting from the 100's and 1000's of samples needed to develop scientific and clinical insights. 

Further Reading

Geospiza wins $1.2 M grant to add new DNA variant application to GeneSifter software.

PerkinElmer selects Geospiza for Next Generation Sequencing.

Keeping Your DNA Sequencing, Genotyping, and Microarray Laboratory Competitive in a New Era of Genomics .

Bloginar: Next Gen Laboratory Systems for Core Facilities

AGBT 2011

More.

That's how I describe this year's conference.

• More attendees
• More data
• More genomes
• More instruments
• More tweeters
• More tweeting controversy
• More software
• More ...

Feel free to add more comments.

Sneak Peak: AGBT and the Next Gen Software Challenge

The Advances in Genome Biology and Technology meeting begins Thursday (2/3) morning with pre-conference workshops on Wed.  I will be there representing Geospiza and presenting a poster entitled, "The Next Gen Software Challenge: Integrating Diverse Assay-Seq and Validation Systems" (abstract below)

In addition to great science and technology AGBT has a large number of tweeting participants including @finchtalk. You can follow along using the #AGBT and (or) #AGBT2011.  

Abstract

By the end of 2011 we will know the DNA sequences for 30,000 human genomes. Understanding how the variation between these genomes affects phenotype at a molecular level, requires that future research projects integrate genome sequences with data from multiple ultra-high throughput assays obtained from large sample populations. Further insights are gained when these data are combined with additional information from external databases and data resources.

Geospiza is meeting the above challenges with its GeneSifter® platform and underlying open-source HDF5 and BioHDF technologies. Our approach centralizes and structures data in a scalable way so that features can be queried across many samples and between different assays to quickly add context to genome sequences as they are collected. Unlike approaches that rely on collections of flat files, specialized software tool kits, isolated genome-browsers, and independent statistical tool environments, GeneSifter integrates common components into a system that provides researchers with a rich, easy to use, environment to explore their data and develop clinical insights.

By: Todd Smith (1), N. Eric Olson (1), Rebecca Laborde (3), Christopher E Mason (2), David Smith (3):  (1) Geospiza, Inc., Seattle WA. (2) Weil Cornell Medical College, NY NY.(3) Mayo Clinic, Rochester MN.