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Rare/Undiagnosed Disease

Genome-Wide Association of CKD Progression: The Chronic Renal Insufficiency Cohort Study

Posted on October 11, 2016October 8, 2020 by Alexis

Journal of the American Society of Nephrology – We performed a genome–wide association study among participants in the Chronic Renal Insufficiency Cohort Study to better understand the contribution of genetics to CKD progression.

Posted in Publication, Rare/Undiagnosed Disease

Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment. The Journal of molecular diagnostics

Posted on March 1, 2016October 8, 2020 by Alexis

The Journal of Molecular Diagnostics – We developed an APOL1 genotyping assay using multiplex allele-specific primer extension, and validated using 58 positive and negative controls.

Posted in Genetic Testing, Publication, Rare/Undiagnosed Disease

Effect of Genetic African Ancestry on eGFR and Kidney Disease

Posted on October 27, 2014October 8, 2020 by Alexis

Journal of the American Society of Nephrology – Self-reported ancestry, genetically determined ancestry, and APOL1 polymorphisms are associated with variation in kidney function and related disease risk, but the relative importance of these factors remains unclear.

Posted in Genetic Testing, Publication, Rare/Undiagnosed Disease
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