At Bio-IT World: Promoting Technological Innovation to Advance Precision Medicine

We are excited to join the 3,000+ researchers, clinicians, and pharmaceutical and IT professionals attending the Bio-IT World Conference in Boston next week. The DNAnexus team will be onsite and headquartered in booth #316, please stop by to learn how DNAnexus helps improve secondary analysis, facilitates collaboration, and provides a scalable and secure platform for genomic research. Register here to attend the conference.

A highlight of the event every year is the Bio-IT World Best Practices Awards. This prestigious award highlights outstanding examples of how technological innovation can be powerful forces of change in the life sciences. This year, our partner M2Gen is a Best Practices Award finalist!

M2Gen has partnered with 15 of the nation’s leading cancer centers via the Oncology Research Information Exchange Network (ORIEN) to deliver informatics-based solutions to accelerate therapy discovery and development. The DNAnexus cloud platform supports molecular data access, management, collaboration, and analysis for ORIEN. This cloud-based approach creates value for all stakeholders, impacting the point-of-care and driving basic cancer research in both academic centers and industry. The multiple categories of the Best Practices Awards will be announced live during the plenary session on Thursday May 25th.

Dr. Hongyue Dai, PhD, CSO of M2Gen, will be in the DNAnexus booth to answer questions and showcase M2Gen’s innovative cancer data network. Come by booth 316 at 10:00am ET on Thursday to learn more.

We will also be showcasing projects with our clinical and software partners. See our full list of activities below. Can’t make it to one of our events? Stop by booth 316 anytime during the conference, or email us to schedule a meeting with a member of our team.

Scaling the World’s Fastest Clinical Genomic Pipeline for Critical Care in Pediatrics
Narayanan Veeraraghavan, PhD, Director of IT, Rady Children’s Institute for Genomic Medicine
Wednesday, May 24, 10:00am-10:30am
DNAnexus Booth #316

Genomic Solutions in Microsoft Azure
Singer Ma, Scientific Operations Director, DNAnexus

Wednesday, May 24th, 2:30pm-3:00pm

Microsoft Booth #529

Rapid Variant Discovery with Sentieon
Brendan Gallagher, Business Development, Sentieon
Wednesday May 24, 3:30pm – 4:00pm
DNAnexus Booth #316

Meet & Greet with M2Gen
Hongyue Dai, PhD, Chief Scientific Officer, M2Gen

Thursday May 25, 10:00am-10:30am

DNAnexus Booth #316

ACMG: A Look at Applying Genomic Data to Clinical Reports

The annual American College of Medical Geneticists (ACMG) conference meets this week (March 21-25, 2017) in Phoenix, Arizona, providing an outstanding forum to learn how genetics and genomics are being integrated into medical and clinical practice. Eric Venner, from the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine, will present the following poster (Abstract Number 368): Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform  on Friday March 24th 10:30AM-12:00PM

In order to meet the demand for timely and cost-efficient clinical reporting, HGSC developed Neptune, an automated analytical platform to sign out and deliver clinical reports. The process starts when a clinical site uploads a test requisition to the HIPAA compliant environment on DNAnexus. Next, de-identified samples are analyzed with HGSC’s variant calling pipeline, Mercury, which feeds into the reporting pipeline, Neptune. Variants of putative clinical relevance are identified for manual review and possible addition to a VIP database of clinically relevant variation. The VIP database currently holds 20,872 SNPs and 3,946 indels, as well as a curated set of copy number variants.

Neptune’s manual review interface was designed with a clinical geneticist in mind. Users can login, curate variants in their samples, update the VIP database accordingly and create clinical reports. Early applications include reporting for the NIH Electronic Medical Records and Genomics (eMERGE) Network III where more than 14,500 samples and a panel of 109 genes will be processed over the course of three years.

eMERGE is a national network that combines DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput genetic research to support investigating how personalized treatments impact patient care. Research so far has led to significant discoveries across a wide range of diseases, including prostate cancer, leukemia, and diabetes.  DNAnexus and the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine worked to build the eMERGE Commons, a data repository where genomic data are merged with patient electronic medical records (EMR), as well as analysis results and bioinformatics tools to be accessed and applied by eMERGE researchers.

Countdown to Beantown: DNAnexus at Festival of Genomics

Next week we’ll be at Festival of Genomics in Boston, to join the three-day celebration of all things genomic! The Festival covers a broad range of topics; exploring new research, technology, and groundbreaking advancements in medicine. We’re excited to hear from the stellar lineup of speakers, such as renowned New York Times columnist, Carl Zimmer, providing journalistic perspective from the genome beat, and Diana Bianchi, from Tufts University School of Medicine, discussing prenatal testing in the genomics era. Like all good festivals, we mustn’t forget to take advantage of the full spectrum of attractions, including posters, workshops, exhibitors, technology forums, and more.

We’re particularly excited to showcase how the DNAnexus Platform has been powering precisionFDA. To date, more than 1,500 community members from 600 organizations are using the precisionFDA platform to help shape precision medicine. Members of the precisionFDA team will be at the DNAnexus booth to demo and answer questions about this community platform for NGS assay evaluation and regulatory science exploration.  

The announcement of the winners of precisionFDA’s second challenge, the Truth Challenge, will also be announced at the festival.  Genomic innovators were invited to participate by testing their informatics pipelines on two datasets: the well-characterized Genome in a Bottle’s NA12878 and a new reference sample HG002, of which the results were unknown. Truly a once in a blue moon challenge, the competition was fierce as thirty-five participants from around the world submitted entries. Join us for the announcement and help us congratulate the winners! 

Announcement of the Winners of the precisionFDA’s Truth Challenge
pFDAPresenter: Elizabeth Mansfield, PhD, Deputy Officer Director for Personalized Medicine, OIR/CDRH/FDA
When: Wednesday, June 29th at 9:00am – Main Stage

Additionally, during the Genomic Medicine track, our own Andrew Carroll will speak on the many factors involved when taking genomic data and medical applications global.

Taking Genomic Medicine Worldwide   

Andrew

Presenter: Andrew Carroll, PhD, VP Science, DNAnexus
When: Tuesday, June 28th at 12pm
Where: Genomic Medicine Track

 

 

 

Finally, we have a bevy of activities with DNAnexus and our partners. Check out our full list of booth activities below:


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We hope you join in our excitement as we gear up for the ultimate genomic gathering! Don’t forget to come say hello to the DNAnexus team and receive a demo of the DNAnexus Platform at Booth #240.