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Approved Research

Prioritizing Mendelian variants using GWAS and exome sequencing data

Principal Investigator: Dr Christopher Cassa
Approved Research ID: 41250
Approval date: January 25th 2021

Lay summary

We intend to improve the understanding of genetic diseases for patients with severe clinical syndromes using data from individuals with common or less severe forms of each disorder. We will use common genetic variants which carry a very small disease risk to identify adjacent genes which might be related to more severe forms of each disorder if damaged. For example, if a patient has very high cholesterol, we would try to determine whether the patient carries a common coding variant nearby which is related a nearby gene which might be important for cholesterol metabolism. Along the same lines, we are also interested in determining whether we can use variant and disease status data to improve clinical risk assessment for patients in established disease genes.