NCBI at ASHG 2018: Data and Clinical CoLabs introduce interactive graphical displays and medical genetics resources

As you know, NCBI will be attending American Society of Human Genetics (ASHG) 2018 in San Diego.

This year, we have two CoLabs – interactive sessions where you can learn about freely available NCBI tools and resources. Read on below for a description of each CoLab and join us at ASHG in two weeks!


Data CoLab: “Interactive Visualization of NCBI Annotations for Variant Interpretation:

Date and Time: Wednesday, October 17, 2018 at 2:30PM

Location: Data CoLab Theater, Booth 214

Audience: Genomics and genetics researchers

You’ll learn how to use NCBI’s Genome Data Viewer (GDV) and Variation Viewer for variant interpretation. GDV and Variation Viewer’s graphical displays offer an interactive experience that easily enables you to explore NCBI’s rich collection of annotations, datasets, and literature for deciphering your variant-associated data.

In this presentation, we’ll go through case studies and show you how to:

  • Quickly display relevant NCBI track sets
  • Upload a file or remotely-hosted dataset and display these as a track
  • Use these browser tracks to identify known variants, then assess variant significance (functional and clinical) and allele frequency
  • Navigate from browser to NCBI resources for additional variant information

pharmacological resources

Clinical CoLab: “NCBI Pharmacogenomics Resources for Clinical Care”

Date and Time: Thursday, October 18, 2018 at 10:30AM

Location: Clinical CoLab Theater, Booth 1005

Audience: Clinicians and clinical educators

You’ll learn how to leverage NCBI’s suite of medical genetics resources to optimize patient care in pharmacogenetic case scenarios. Resources to be highlighted include:

  • MedGen to find literature, clinical and molecular information pertaining to pharmacogenetic drug response, which may be helpful for optimizing a patient’s treatment
  • Genetic Testing Registry (GTR) to find a suitable genetic test for assessment of a patient’s pharmacogenetic-related genetic variants
  • ClinVar to assist in the interpretation of a patient’s genetic variants
  • Medical Genetics Summaries to learn about a patient’s likely phenotype based on genotype (specific alleles, a.k.a. genetic variants) and identify potentially relevant therapeutic dosing recommendations

To stay up-to-date about NCBI staff activities at ASHG 2018, follow us on Twitter at @NCBI_Clinical ‏and @NCBI. For more information about other NCBI presentations at ASHG, check the Conferences and Presentations page.

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