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- W2098183045 abstract "cleotide polymorphism (SNP 1 ) discovery projects. The publications were limited to only this aspect of the science and failed to include any studies that extended beyond the discovery phase. No attempt was made to elucidate the possible functional significance of the identified genetic variants, to determine whether or not a given SNP might be in linkage disequilibrium with previously identified functional variants on the same gene, or to validate the frequency of the SNPs in an adequate number of individuals from one or more ethnic groups. It is recognized that such SNP discovery projects initially represented a novel approach and were considered meritorious based on their hypothesis-generating potential. Furthermore, it also is recognized that such studies often represented intensive efforts. However, as has occurred in the past, the field has quickly moved beyond this infant phase, and it is posited that SNP discovery alone no longer meets the criteria for publication in the peer-reviewed literature. Most importantly, this is not to opine that SNP discovery is unimportant in understanding genetic variability; on the contrary, it is a significant and necessary first step. It is suggested that future manuscript submissions to Drug Metabolism and Disposition meet certain criteria. Any SNP discovery project should be extended such that the resulting report contains information regarding functional impact, frequency, and/or linkage to previously demonstrated functional variants. The high frequency of SNPs in the human genome is consistent with most sequence variants not having a significant impact on gene function. A given SNP might be linked with a functional variant and thus be useful as a marker, but this should be demonstrated and quantified. An exception might be made for SNPs that would have an obvious function, e.g., variants that" @default.
- W2098183045 created "2016-06-24" @default.
- W2098183045 creator A5055852244 @default.
- W2098183045 date "2003-08-14" @default.
- W2098183045 modified "2023-09-27" @default.
- W2098183045 title "PUBLICATION OF STAND-ALONE SINGLE NUCLEOTIDE POLYMORPHISM (SNP) DISCOVERY DATA" @default.
- W2098183045 doi "https://doi.org/10.1124/dmd.31.9.1073" @default.
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