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NCBI Resources: Variation Exercises

Contains information about the NCBI databases to be used as a teaching tool.

Variation Exercises

Use these exercises to test your knowledge of the NCBI variation databases

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Scenario: SNPs and disease risk

You get your genetics analyzed by 23 and me, but you did it after they gave you health information. You want to know whether one of your SNPs (rs964184) puts you at risk for any genetic diseases. How do you look for clinical information related to SNPs?

Scenario: genes and disease risk

You have data from a patient that has a variation in the APOE gene. What diseases do they have higher than average risk factors for?

Scenario: Phenotype to gene

Patient is presenting with excess blood clotting, which she thinks might be related to something that runs in her family. How do find what genes (if any) that are associated with that phenotype? Where do you find genetic tests?

Scenario: novel mutation

Your patient undergoes exome sequencing and has a novel deletion of chr2:152,100,000-151,850,000. How do you find out what genes are nearby this variant?