Characterization of Coding/Noncoding Variants for in Patients with CKD.

Interpreting genetic variants is one of the greatest challenges impeding analysis of rapidly increasing volumes of genomic data from patients. For example, is an associated risk gene for CKD, yet causative mechanism(s) of allele(s) are unknown. We used our analytic pipeline that integrates genetic, computational, biochemical, CRISPR/Cas9 editing, molecular, and physiologic data to characterize coding and noncoding variants to study the human risk locus for CKD.