Journal article

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Cole Shulman, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich, Michelle Hladunewich, York Pei, Judy Savige, Andrew D Paterson, Mary Ann Suico, Hirofumi Kai, Moumita Barua

Kidney Medicine | Published : 2021

Abstract

Rationale & Objective: Pathogenic variants in type IV collagen have been reported to account for a significant proportion of chronic kidney disease. Accordingly, genetic testing is increasingly used to diagnose kidney diseases, but testing also may reveal rare missense variants that are of uncertain clinical significance. To aid in interpretation, computational prediction (called in silico) programs may be used to predict whether a variant is clinically important. We evaluate the performance of in silico programs for COL4A3/A4/A5 variants. Study Design Setting & Participants: Rare missense variants in COL4A3/A4/A5 were identified in disease cohorts, including a local focal segmental glomerul..

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