Whole exome sequencing, a technique for sequencing the protein-coding genes in the genome, can identify multiple potential genetic causes of inherited kidney disease, according to investigators.
Their study of exome sequencing and diagnostic analysis involving 2 cohorts totaling 3315 patients with chronic kidney disease (CKD) detected diagnostic variants in 307 patients (9.3%).
Of these, 206 (67%) had an autosomal dominant disease, 42 (14%) had an autosomal recessive disease, and 54 (18%) had an X-linked disease, principal investigator Ali G. Gharavi, MD, of Columbia University College of Physicians and Surgeons in New York, and colleagues reported in the New England Journal of Medicine.
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