Article
Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.
Journal of the American Society of Nephrology : JASN - 1 May 2018
Prokop Jeremy W, Yeo Nan Cher, Ottmann Christian, Chhetri Surya B, Florus Kacie L, Ross Emily J, Sosonkina Nadiya, Link Brian A, Freedman Barry I, Coppola Candice J, McDermott-Roe Chris, Leysen Seppe, Milroy Lech-Gustav, Meijer Femke A, Geurts Aron M, Rauscher Frank J, Ramaker Ryne, Flister Michael J, Jacob Howard J, Mendenhall Eric M, Lazar Jozef
Abstract excerpt
Background Interpreting genetic variants is one of the greatest challenges impeding analysis of rapidly increasing volumes of genomic data from patients. For example, SHROOM3 is an associated risk gene for CKD, yet causative mechanism(s) of SHROOM3 allele(s) are unknown.Methods We used our analytic pipeline that integrates genetic, computational, biochemical, CRISPR/Cas9 editing, molecular, and physiologic data...
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