We retrospectively reviewed published variants in the PKD1 genes and detected errors in 39 of 771 variants (5.06% (95% c.i., 3.62-6.85)). All arose from human processing mistakes. As peer-reviewed publication is no safeguard for those considering the clinical significance of an unknown variant, we suggest that reporting of new variants for the proposed Human Variome Project should employ both automated reporting and expert scrutiny.
Analysis of published PKD1 gene sequence variants
AGUIARI, Gianluca;DEL SENNO, Laura
2007
Abstract
We retrospectively reviewed published variants in the PKD1 genes and detected errors in 39 of 771 variants (5.06% (95% c.i., 3.62-6.85)). All arose from human processing mistakes. As peer-reviewed publication is no safeguard for those considering the clinical significance of an unknown variant, we suggest that reporting of new variants for the proposed Human Variome Project should employ both automated reporting and expert scrutiny.File in questo prodotto:
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