We retrospectively reviewed published variantsin the PKD1 genes and detected errorsin 39 of 771 variants (5.06% (95% c.i.,3.62–6.85)). All arose from human processingmistakes. As peer-reviewed publicationis no safeguard for those considering theclinical significance of an unknown variant,we suggest that reporting of new variantsfor the proposed Human Variome Projectshould employ both automated reportingand expert scrutiny.
Analysis of published PKD1 gene sequence variants.
TURCO, Alberto;
2007-01-01
Abstract
We retrospectively reviewed published variantsin the PKD1 genes and detected errorsin 39 of 771 variants (5.06% (95% c.i.,3.62–6.85)). All arose from human processingmistakes. As peer-reviewed publicationis no safeguard for those considering theclinical significance of an unknown variant,we suggest that reporting of new variantsfor the proposed Human Variome Projectshould employ both automated reportingand expert scrutiny.
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