dbGaP (the NIH database of Genotypes and Phenotypes) is celebrating its 10th Anniversary this year! We are proud to support over 850 studies and 1.6 million samples.

We invite you to join us at the dbGaP 10th Anniversary Symposium to be held on June 9, 2017; 1:30-3:00 PM Wilson Hall, Building-1 on the NIH Bethesda campus. For information on Campus access and security, NIH Visitor Center, Parking, and directions to NIH, see the NIH Visitor Information page.

The symposium includes six lightning talks highlighting the past, present and future of the dbGaP resource followed by a social hour.

Please contact bioinformatics-training@ncbi.nlm.nih.gov if you have any questions.

Reasonable accommodations will be provided for individuals with disabilities.

Read on for a list of speakers and abstracts.

Lightning Talks

 

Dina Paltoo, PhD, MPH

Office of the Director, NIH

“dbGaP: At the Intersection of Policy and Research”

Through the NIH Genomic Data Sharing (GDS) Policy, NIH expects the submission and responsible sharing of large-scale genomic data for secondary research use, in a manner that is consistent with the consent of the original study participants from whom the data are generated. dbGaP, which has served as the central portal at the intersection of these efforts, is a rapidly growing and highly utilized resource and has facilitated access to over 4,900 datasets from 834 studies, representing over 1.3 million unique research participants.

 

Leah E. Mechanic, PhD and Elizabeth M. Gillanders, PhD

National Cancer Institute, NIH

“Up For a Challenge (U4C) – Stimulating Innovation in Breast Cancer Genetic Epidemiology”

The goal of U4C was to foster innovative approaches to identify novel pathways—including new genes or combinations of genes, genetic variants, or sets of genomic features—involved in breast cancer susceptibility. The results demonstrate the utility of a prize competition utilizing data from dbGaP to encourage innovation in genetic epidemiology research.

 

Carol Hamilton, PhD

RTI International

“The PhenX Toolkit: A Catalog of Measures and Bioinformatics for Collaborative Research”

An overview of the contents, features and utility of the PhenX Toolkit will be presented. A brief history of the genesis of the project will provide context, and results from collaborative efforts across NIH and overall uptake of PhenX measures will be highlighted.

 

Li-San Wang, PhD

University of Pennsylvania

“Alzheimer’s Disease Sequencing Project Discovery Phase Data Management”

The Alzheimer’s disease Sequencing Project (ADSP) is a key NIA initiative to find new genetic variants for late-onset Alzheimer’s disease (AD). During the Discovery Phase of the project, more than a hundred researchers in United States and Europe processed and analyzed whole genomes/whole exome sequences of more than 11,000 AD patients and cognitively normal elderly controls. The National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) is the Data Coordinating Center for ADSP. In this talk I will introduce the project and how NIAGADS collaborates with dbGaP/SRA in data production and community sharing.

 

Kimberly F. Doheny, PhD

Johns Hopkins University School of Medicine

“The GWAS Era: a Catalyst for Data Quality, Reproducibility, and Data Sharing”

A look back at how the GWAS era impacted the field of complex disease genomics through the lens of the Center for Inherited Disease Research (CIDR).

 

Bryan J. Traynor, MD, PhD

National Institute on Aging, NIH

“Importance of dbGaP in ALS Research”

The last decade has seen remarkable advances in our understanding of the genetics underlying amyotrophic lateral sclerosis, a fatal neurodegenerative disease that kills ~6,000 Americans annually. Here, we outline how data available from dbGaP has been instrumental in these efforts, and how the dbGaP repository has contributed to the field.

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