Two up-and-coming NCBI resources will be featured in videos, surveys and live events at the American Society for Human Genetics (ASHG) 2020 Annual Meeting. Come and watch on-demand videos in the CoLab Theater. Then, let us know what you think and how you do or might use these resources by either taking an online survey or joining us for the CoLab Live! Events on Thursday, October 29, 2020.
Are you interested in human population genetic variation data?
Lon Phan, Ph.D., Head of the dbSNP and dbVar Databases and the ALFA Project Team presents:
“Perform complex variant analysis, visualization, and interpretation with NCBI’s dbSNP and ALFA data”
NCBI’s ALFA project is one of the world’s largest open-access population frequency dataset and expanding with the second data release coming soon for ~200K dbGaP subjects. We’ve developed a suite of tools to enable effective use of ALFA information, including the dbSNP search system, Variation Services, and GDV with data in TrackHubs. Using these, researchers and clinicians can easily perform complex searches, analyses, and visualizations of variant and frequency data.
In this presentation, we will highlight new features and tutorials which enable data discovery of genetic variation frequency for specific populations. We will demonstrate how to search for specific variations in a gene and other terms and, for more general searches, how to filter search results by allele frequency, somatic mutations, and other attributes. Finally, we will demonstrate how to quickly and easily use these NCBI tools to identify candidate disease mutations, including those with assertions of pathogenicity in ClinVar.
Join us Thursday, October 29, 2020 at 12noon EST for SNP-ALFA CoLab Live!
Talk directly with Dr. Phan in a Q&A. Let him know you use population frequency data and how we could improve our resource to help your work. Register here.
If you cannot make the CoLab Live! Event, please help us by filling out this online survey to let us know what you think so we can gather feedback for future improvements of the dataset and related tools.
Do you need genomic and gene datasets for your work?
Nuala O’Leary, Ph.D., Head of the NCBI Datasets Team & Wayne Matten, Ph.D., NCBI Education Faculty present:
“Learn how to retrieve custom gene and genome datasets using NCBI Datasets, a new & developing resource”
NCBI Datasets is a new resource for building custom datasets with the goal of reducing the burdens users currently face retrieving data from NCBI. In this presentation, we will introduce this new resource and show you how it can be used to download popular human genome datasets and customize and download your own gene-based dataset. We’ve developed NCBI Datasets with both web and programmatic (command line and API) interfaces to provide maximum flexibility for NCBI customers and will demonstrate some new Jupyter Notebook-based tutorials that we’ve developed to assist researchers who prefer to use scripting-based dataset acquisition and analysis.
Join us Thursday, October 29, 2020 at 2:30pm EST for NCBI Datasets CoLab Live!
Tell Dr. O’Leary how you use genomic datasets and help us learn what types and formats of data you’d love to be able to get and how! Register here.
If you cannot make the CoLab Live! Event, please help us by filling out this online survey to let us know what you think so we can gather feedback for future improvements of the NCBI Dataset service.