Using NCBI resources to research, detect, and treat genetic phenotypes

Using NCBI resources to research, detect, and treat genetic phenotypes

Clinical Genetics Information at Your Fingertips

NCBI offers a portfolio of medical genetics resources to help you research, diagnose, 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. 

How and why should you 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. 

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 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. 

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

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.

Learn about genetic variants associated with Lynch Syndrome

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

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

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

This example illustrates how 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? Stay tuned for a detailed video! 

One thought on “Using NCBI resources to research, detect, and treat genetic phenotypes

Leave a Reply