Location of Repository

Analysis of published PKD1 gene sequence variants.

By GOUT AM, THE ADPKD GENE VARIANT CONSORTIUM, RAVINE D, HARRIS PC, ROSSETTI S, PETERS D, BREUNING M, HENSKE EP, KOIZUMI A, INOUE S, SHIMIZU Y, THONGNOPPAKHUN W, YENCHITSOMANUS PT, DELTAS C, SANDFORD R, TORRA R, TURCO AE, JEFFERY S, FONTES M, SOMLO S, FURU LM, SMULDERS YM, MERCIER B, FEREC C, BURTEY S, PEI Y, KALAYDJIEVA L, BOGDANOVA N, MCCLUSKEY M, GEON LJ, WOUTERS CH, REITEROVA J, STEKROVA J, SAN MILLAN JL, G. AGUIARI and DEL SENNO L

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

Publisher: Nature America Incorporated:345 Park Avenue South, 6th Floor:New York, NY 10010:(888)331-6288, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: (212)689-9108
Year: 2007
OAI identifier: oai:iris.unife.it:11392/470715
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • http://www.nature.com, (external link)
  • http://hdl.handle.net/11392/47... (external link)
  • Suggested articles


    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.