Cloud Bioinformatics Made Easy: A Workshop with SCGPM

In April, the Stanford Center for Genomics and Personalized Medicine (SCGPM) adopted the DNAnexus portal for its sequencing facility. Researchers across nearly eighty laboratories are now able to use SCGPM’s DNAnexus portal to access, share, and analyze their genomic sequencing data. Last Friday, SCGPM and DNAnexus hosted an interactive workshop with the goal of arming these researchers with the necessary tools to conduct bioinformatics tasks in the cloud, and to maximize the utility of the DNAnexus Platform for hundreds of the university’s researchers.

The workshop began with an introduction of the Platform, and moved into demonstrations teaching attendees how to manage, share, and visualize their genomic data through a Web browser. Participants were also taught how to navigate the Platform and perform the same tasks from the command-line interface (CLI). Although you don’t need to be a CLI expert to use DNAnexus, attendees were able to learn some tips and tricks to run analyses and automate tasks using this feature.

Attendees of the workshop received first-hand experience building custom applets on the DNAnexus Platform. DNAnexus comes pre-loaded with a variety of different apps, but also allows users to build a custom pipeline or port a local pipeline to the cloud easily. For an in-depth tutorial, visit our Developer Portal.

In addition to the hands-on tutorials, attendees heard how genomics experts from Stanford, Natera, and CareDx are using DNAnexus to support their genomic research.

Ramesh Nair, Bioinformatics Manager at Stanford Center of Excellence in Stem Cell Genomics, presented on how he uses DNAnexus to support his RNA-sequencing analysis. He highlighted some best practice pipelines to use for RNA-seq and variant calling and discussed read mapping and transcript quantification strategies. Nair also demonstrated how he conducts his RNA-seq analysis on DNAnexus, giving the researchers a glimpse into wide array of applications of the Platform.

IMG_5192Raheleh Salari, Bioinformatics Manager at Natera, presented how DNAnexus is being used in industry to advance cancer diagnostics. In her talk, titled “Liquid Biopsy: The Next Gold Standard for Diagnosis”, Salari emphasized the benefits of liquid biopsy, including less patient risk, less costly analysis, and the ability to detect cancer at a much earlier stage than traditional tissue biopsies. Furthermore, liquid biopsies have the potential to provide a more complete view of the tumor genetic composition. Natera adopted DNAnexus in January 2015, and has since used the Platform to support data analysis, storage, and sharing of its genetic tests. Natera continues to use DNAnexus as it enters the oncology screening market.

We were also honored to hear from David Ross, Senior Director of Bioinformatics at CareDx, who discussed moving organ transplant diagnostic analysis to the cloud on DNAnexus. Ross presented on AlloSure, CareDx’s next-generation sequencing test for measuring the percentage of donor-derived cell-free DNA (dd-cfDNA) in solid organ transplant recipients. Based on analytical and clinical validity, results demonstrate increased levels of dd-cfDNA in acute kidney rejection using the non-invasive AlloSure assay. Ross also placed a heavy focus on the need for collaboration and data sharing within the transplant community to lead to rapid advancements. The data sharing capabilities of DNAnexus make this kind of collaboration possible.

Through the tutorials and lessons from customer use cases, our hope is that researchers left feeling empowered to use the DNAnexus Platform for their bioinformatics tasks, as well as how DNAnexus can support their broad research initiatives. If you missed the workshop and want to learn for yourself how to get started on the Platform, take a video tour through a collection of videos in our knowledge center.

The U.S. Cancer Moonshot and a Culture of Collaboration

Yesterday, United States Vice President Joe Biden hosted the National Cancer Moonshot Summit. Scientists, oncologists, donors, and patients convened for a daylong conference intended to pick up the pace of research towards curing cancer. Rather than focusing on one specific type of cancer, the conference broadly discussed more than 100 types of cancer; emphasizing strategies for prevention, early detection, wide access to treatment, and encouraging collaboration among researchers. You can read a first-hand account from our CMO, David Shaywitz, here.

As part of the Moonshot effort, DNAnexus, in partnership with PatientCrossroads, has committed to develop the Integrated Data Engagement Analytics (IDEA) platform to facilitate the collection, analysis, and sharing of genetic, proteomic, and EMR/phenotypic data to accelerate disease research. PatientCrossroads and DNAnexus are currently engaging in a pioneering effort to help patients obtain the raw genetic files and medical records and then integrate these data along with patient reported outcomes data obtained by PatientCrossroads on a secure and compliant platform that allows authorized researcher access to this information and use it to develop novel insights — the IDEA platform. You can review the complete list of public and private sector Cancer Moonshot commitments announced in the White House press release.

Here at DNAnexus, we are particularly devoted to reducing the technical barriers to accessing and working with research datasets.  We believe that a culture of openness in genomic research will lead to greater medical breakthroughs. Most data sharing in cancer genomics research has been centralized through rich, yet controlled-access databases like The Cancer Genome Atlas (TCGA) or International Cancer Genome Consortium (ICGC) — both of which properly approved researchers can easily access on the DNAnexus Platform. Read more about some of the genomic community collaborative initiatives DNAnexus is a part of: precisionFDA, open access cancer genomics pilot, and ICGC.

 

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:


TuesFlyer

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.