National Center for Biotechnology Information, NIH (NCBI)

• Booth: 849

NCBI as part of NLM at NIH provides free access to biomedical, molecular, literature, and medical genetics databases including PubMed, Gene, Nucleotide, Protein, dbSNP, ClinVar, MedGen, GeneReviews, and the Genetic Testing Registry. It also provides analysis tools for sequence alignment, exon, and variation mapping. NCBI is currently working on the NIH Comparative Genomics Resource (CGR), a multi-year project to maximize the impact of eukaryotic research organisms and their genomic data resources to biomedical research.

 Press Releases

• Introducing the NIH Comparative Genomics Resource (CGR) Project (Sep 27, 2022)

  The National Institutes of Health (NIH) Comparative Genomics Resource, known as CGR, is a multi-year National Library of Medicine project to maximize the impact of eukaryotic research organisms and their genomic data resources to biomedical research. The National Center for Biotechnology Information (NCBI) is charged with leading development and engaging genomics communities. The CGR project will facilitate reliable comparative genomics analyses for all eukaryotic organisms in collaboration with the genomics community.

  Why is Comparative Genomics Important to Human Health?

  Comparative genomics allows researchers to use genomic data from well-characterized model organisms to answer questions about human biology and disease. Some of these model organisms include commonly utilized inter-species comparisons, however comparative genomics may also be used to identify new or better fitting models as the genomics of other organisms are more clearly defined. Comparative analysis can be used to systematically explore and evaluate the biological relationships and evolution between humans and other species, aid in understanding the structure and function of human genes and gain a better understanding of human disease and potential drug targets.

  CGR aims to:

  • Promote high-quality eukaryotic genomic data submission.
  • Enrich NLM’s genomic-related content with community-sourced content.
  • Facilitate comparative biological analyses.
  • Support the development of the next generation of scientists.

  If you are a member of a model organism community, are working on emerging eukaryotic research models, or support eukaryotic genomic data—whether you are a researcher, educator, student, scholarly society member, librarian, data scientist, database resource manager, developer, epidemiologist, or other stakeholder in our progress—we encourage you to connect with us at ASHG and get involved.

  Learn more about CGR at NCBI’s schedule of activities:

  Listening Session: A Conversation with NCBI about the NIH Comparative Genomics Resource (CGR)

  Tuesday, October 25, 11:30 am – 12:30 pm PT

  Location: Los Angeles Convention Center
  Room: 407 

  Talk: The NIH Comparative Genomics Resource

  Friday, October 28, 9:05 am – 9:20 am PT

  Location: Los Angeles Convention Center

  Room: Room 15, West Building

  NCBI Booth #849, Exhibit Hall

  Stop by our booth to provide feedback, ask questions, or just to chat!

  Wednesday, October 26, 10:00 am - 5:00 pm PT
  Thursday, October 27, 10:00 am - 5:00 pm PT
  Friday, October 28, 10:00 am - 2:00 pm PT

  Stay up to date on the latest CGR developments:

  • Check out our website

  • Join our mailing list

  • Follow us on social media (#NCBICGR)

  • Twitter

  • Facebook

  • LinkedIn

  • GitHub

  • NCBI Insights Blog

  Can’t attend ASHG, but want to provide feedback?

  Provide your input at one of our upcoming virtual listening sessions:

  October 19, 2022, 12:00 pm – 1:00 pm ET

  November 9, 2022, 12:00 pm – 1:00 pm ET

  We’re always excited to get feedback through CGR listening sessions and user testing for tool and resource updates. Email cgr@nlm.nih.gov and tell us about your area of interest to learn all the ways you can participate.

• Using NCBI resources to help research and manage clinical care of genetic phenotypes (Sep 27, 2022)

  Clinical Genetics Information at Your Fingertips

  NCBI has medical genetics resources to help you research, detect, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of submitters and share your germline and/or somatic data to advance discovery and optimize clinical care. 

  Here’s more on how and why to use our resources. Consider the example below.

  Your patient is a 40-year-old mother of two presenting with changes in bathroom habits, bleeding, and belly pain. She has a medical history of colonic polyps. Her family history reveals that her maternal grandmother, mother and uncle had several forms of cancers including colon, breast, and endometrium. 

  You suspect Lynch Syndrome and use NCBI resources to learn more. The following are relevant NCBI resources with example records and search results. 

  MedGen:

  Learn more about Lynch Syndrome, including disease characteristics displaying from authoritative sources like GeneReviews, clinical features, professional guidelines from medical and professional societies. There are also links to research articles in Pubmed and links to ClinicalTrials.gov. You can search by clinical features to help you build a differential diagnosis and you will also find therapeutic guidelines based on phenotype for drugs used in treatment available from the Medical Genetics Summaries (MGS) in drug response pages. 

  GeneReviews:

  Read peer-reviewed and expert-researched articles about Lynch Syndrome. 

  Genetic Testing Registry:

  Find a single gene or multi-gene panel to help diagnose Lynch Syndrome. You will also find tests to help guide therapy, evaluate risk and inform prognosis. When available, you will also find research tests for the condition.

  ClinVar:

  Find genetic variants associated with Lynch Syndrome and learn about the interpreted significance of germline and somatic variants submitted by clinical laboratories, researchers, expert panels, and others.

  Allele Frequency Aggregator (ALFA):

  Search for the allele frequency of alleles related to Lynch Syndrome based on human populations. 

  dbSNP:

  Access information on common and rare genetic variants for a gene associated with Lynch Syndrome. 

  dbGaP:

  Find human clinical study data and molecular characterizations for Lynch Syndrome and a related disorder. 

  Researchers, clinicians, health professionals, and patients can benefit from the availability of NCBI data associated with a particular disease or condition and its molecular cause.

  Want to view the full case study? Watch our detailed video.

  Stop by our NCBI booth (#849) at ASHG 2022 to ask questions, provide feedback, or learn more about our clinical resources.