A Sun Kissed Recap of ASHG 2014

ASHG14 boohLast week, we had the pleasure of attending ASHG in sunny San Diego. This year’s meeting brought together over 8,000 people focused on human genetics, making it the largest meeting of its kind. This year’s talks were great and we were especially excited about the focus on big genomic datasets.

One of the more interesting presentations was by Daniel MacArthur of MGH who discussed the release of data from the 63,000 exome project. These data are available in an open source database and will provide a valuable new resource for researchers looking at variation. Other work from MacArthur’s lab was also presented, notably, Konrad Karczewski’s talk on the human knockout project, which is focused on finding loss-of-function variants in humans. We, of course, are always interested to hear about new large-scale projects and what researchers are doing with bigger and bigger datasets.  From our booth on the show floor we talked to many researchers who are struggling to manage larger and larger datasets and are looking for solutions that allow them to decrease the time they are spending on infrastructure so that they can focus more on their science.

We were also pleased to host a panel moderated by our very own David Shawitz who led a discussion with David Carey (Geisinger Health System), Jeffrey Reid (Regeneron Genetics Center), Marylyn Ritchie (Penn State), and William Salerno (Baylor College of Medicine). The lively discussion covered the new bottleneck in genomics created by the colliding rich datasets (e.g. NGS data with phenotypic data).  While we have moved beyond the challenges of reading, storing and processing DNA sequencing data, we have entered a new phase where the next wave of advancements will come from projects where diverse sources of data are integrated and interrogated collectively.

This is always a great meeting and we at DNAnexus are already looking forward to Baltimore next year.  We want to thank everyone who made our experience at ASHG so rewarding, including all the scientists who stopped by our booth to learn more about our cloud-based genome informatics and data management platform.

If you missed ASHG or have questions, learn more here (and here:  GigaOm and GenomeWeb) about how DNAnexus is powering the first cloud-based genome center to integrate next generation sequencing with de-identified clinical records.

To learn about other events we are attending, please visit our events page.

 

Genomic & Phenotypic Data Collide at ASHG

ASHG 2014It’s that time of year again!  If you are headed to sunny San Diego for ASHG please be sure  to stop by booth #1114 to say hello, ask questions and check out a demo of the newest DNAnexus features.

We’ll also be hosting a panel discussion (free lunch!) with experts from the pharmaceutical industry and healthcare to academia, who will talk in-depth on how they are actually bringing together genomic and phenotypic data.

The premise of this panel is that the new bottleneck in genomics is colliding rich datasets (e.g. NGS data with phenotypic data).  While we have moved beyond the challenges of reading, storing and processing DNA sequencing data, we have entered a new phase where the next wave of advancements will come from projects where diverse sources of data are integrated and interrogated collectively. The conversation will cover technical innovations and specific approaches with a focus on what is working and why, along with challenges encountered and how they are being addressed.


Lunch Panel Discussion Details

Title:  Leveraging Genomic and Phenotypic Data to Advance Science and Improve Patient Care
When:  Monday, October 20th, 12:30pm – 2pm (Lunch is on us! Join us to take a break and talk genomics.)
Where:  Convention Center – Room #2, Upper Level

Moderator:
David Shaywitz, MD, PhD, DNAnexus CMO & Co-Author, Tech Tonics: Can Passionate Entrepreneurs Heal Healthcare With Technology?

Panelists:
David Carey, PhD – Associate Chief Research Officer, Geisinger

Jeffrey Reid, PhD – Director and Head of Genome Informatics, Regeneron Genetics Center

Marylyn D. Ritchie, PhD – Director, Center for Systems Genomics; Professor, Biochemistry and Molecular Biology; Pennsylvania State University

William Salerno, PhD – Sr. Staff Scientist, Human Genome Sequencing Center, Baylor College of Medicine

 

You can also hear about DNAnexus in the following poster sessions:

Poster #1517T
Presenter: Andrew Carroll, PhD – Director of Science, DNAnexus
Investigating the relationship between allele frequency of benign variants used in training mutation impact predictors and overprediction of deleteriousness

Poster #1589T
Presenter: Singer Ma – Scientist, DNAnexus
Title: Reproducible and repurposable toolkit of structural variant callers applied to 3,751 whole genomes and 10,940 whole exome