At DNAnexus we always look forward to attending the American Society of Human Genetics (ASHG) annual meeting. It’s the world’s largest genetics meeting and this year it’s held in the quintessential coastal seaport of Vancouver, BC. This meeting always delivers by showcasing cutting edge science in the genetics and genomics industry.
Stop by the DNAnexus booth (#100) to demo the latest platform features, hear about new research applications the DNAnexus Platform is supporting, and join our lunchtime discussion to learn how DNAnexus has created the global network for genomics – and what that means for you.
The lunchtime discussion, The Rise of the Genomics Network, will highlight the need for improved approaches to data integration, scalability, and global collaboration within the genomics industry. In clinical genomics, pipelines need to be reliable, assembled quickly, and integrate with existing processes. During this lunch hour, the DNAnexus Team will explore how customers use the DNAnexus Platform to construct and deploy end-to-end solutions for health data networks.
David Shaywitz, MD, PhD, Chief Medical Officer and Andrew Carroll, PhD, Vice President of Science will discuss real world examples from:
- Regeneron Genetics Center
- Geisinger Health System
- Rady Children’s Hospital,
- ORIEN – Oncology Research Information Exchange Network
- Ebola viral sequencing onsite, and more.
Lunchtime Talk Details:
- Friday, October 21, 2016
- 1:00pm – 2:30pm
- Convention Centre Room 18, East Building
- Lunch and refreshments will be provided for attendees
- RSVP here
The DNAnexus Platform is leveraged in a variety of research applications.
WED, OCT 19 — 2:00PM-3:00PM
Poster #655W: GWAS to 30X genomes: Evolution of sequencing in the ARIC cohort to reveal the genetic architecture of complex traits.
Lead Author: Ginger A. Metcalf, Baylor College of Medicine, Human Genome Sequencing Center
Poster #1885W: High-throughput clinical reporting of gene panels with the Neptune Pipeline.
Lead Author: Eric Venner, Baylor College of Medicine, Human Genome Sequencing Center
Poster #1309W: EHR data illuminates patient subtypes in obstructive lung diseases yielding new insights for genetic discovery.
Lead Author: Nilanjana Banerjee, Geisinger-Regeneron DiscovEHR Collaboration
Poster #3247W: Enhanced screening performance of a SNP-based NIPT for five clinically significant microdeletions in a large clinical cohort.
Lead Author: Kim Martin, Natera
Poster #1315W: Disease associations of common and rare calcium sensing receptor variants in the 50K DiscovEHR cohort.
Lead Author: Gerda E. Breitwieser, Geisinger Health System
WED, OCT 19 — 3:00PM-4:00PM
Poster #682W: Exome-wide association analysis of cardiac structural traits in large healthcare provider organization identifies genetic heterogeneity underlying left ventricular structure and overlapping genetic architecture with cardiomyopathy genes.
Lead Author: Jonathan Chung, Regeneron Genetics Center
Poster #2638W: Penetrance in the EHR record of 76 DiscovEHR Cohort participants with two recurrent pathogenic variants.
Lead Author: Kandamurugu Manickam, Geisinger Health System
THUR, OCT 20 — 2:00PM-3:00PM
Poster #1775T: Structural variant calling combining Illumino and low-coverage PacBio.
Lead Author: Andrew Carroll, DNAnexus
Poster #1205T: Exome sequencing in DiscovEHR identifies rare variants in anion transporter genes that exert large effects on uric acid levels and gout.
Lead Author: Jan Freudenberg, Regeneron Genetics Center
Poster #2099T: The role of the ENCODE Data Coordination Center.
Lead Author: Jean M. Davidson, Department of Genetics, School of Medicine, Stanford University
THUR, OCT 20 — 3:00PM-4:00PM
Poster #1790T: The eMERGE Network: Continuing the legacy of genomic discovery to enrich precision medicine.
Lead Author: Melissa A. Basford, eMERGE Network
Poster #512T: Trajectory of new variants requiring pathogenicity assessment as potential secondary findings across 50,000 exomes in the DiscovEHR cohort.
Lead Author: Uyenlinh T. Mirshahi, Geisinger-Regeneron DiscovEHR Collaboration
Poster #2102T: Integrated metadata-driven access of ENCODE, modENCODE, REMC, GGR and modERN data through a common portal.
Lead Author: Esther T. Chan, Department of Genetics, School of Medicine, Stanford University
FRI, OCT 21 — 2:00PM-3:00PM
Poster #3207F: Rapid, high-throughput clinical sequencing and reporting for personalized medicine
Lead Author: Donna M. Muzny, Baylor College of Medicine, Human Genome Sequencing Center
FRI, OCT 21 — 3:00PM-4:00PM
Poster #1626F: Discovery and replication of rare variant associations using a knowledge-driven PheWas approach in eMERGE and Geisinger Health System.
Lead Author: Anna O. Basile, Pennsylvania State University
Poster #1764F: The ENCODE analysis pipelines: Repeatable and shareable analysis tools for ChIP-seq, RNA-seq, DNase-seq, and whole genome bisulfite experiments.
Lead Author: J.Seth Strattan, Stanford University Medical School
Poster #510F: A phenome-wide gene burden analysis to identify DrugBank genes associated with patient diagnoses.
Lead Author: Sarah Pendergrass, Geisinger Health System