Contributions of Rare Gene Variants to Familial and Sporadic FSGS.

Minxian WangJustin ChunGiulio GenoveseAndrea U KnobAva BenjaminMaris S WilkinsDavid J FriedmanGerald B AppelRichard P LiftonShrikant ManeMartin R Pollak

Published in: Journal of the American Society of Nephrology : JASN (2019)

Although our analysis validated many known FSGS-causing genes, we detected a nontrivial number of purported "disease-causing" variants in controls, implying that filtering is inadequate to allow clinical diagnosis and decision making. Genetic diagnosis in patients with FSGS is complicated by the nontrivial rate of variants in known FSGS genes among people without kidney disease.

Keyphrases

copy number
genome wide
genome wide identification
decision making
dna methylation
bioinformatics analysis
late onset
early onset
transcription factor