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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Becky Mingyao Ma1, Nora Franceschini2
1Division of Nephrology, Department of Medicine, Queen Mary Hospital, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong Special Administrative Region, China.
Genetic testing for chronic kidney disease aids diagnosis, prognosis, and family planning. This review summarizes guidelines for genetic testing in kidney disease patients and at-risk individuals, focusing on monogenic disorders and APOL1.
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