Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies.

ABSTRACT: The creation of single nucleotide polymorphism (SNP) databases (such as NCBI dbSNP) has facilitated scientific research in many fields. SNP discovery and detection has improved to the extent that there are over 17 million human reference (rs) SNPs reported to date (Build 129 of dbSNP). SNP databases are unfortunately not always complete and/or accurate. In fact, half of the reported SNPs are still only candidate SNPs and are not validated in a population. We describe the identification of SNDs (single nucleotide differences) in humans, that may contaminate the dbSNP database. These SNDs, reported as real SNPs in the database, do not exist as such, but are merely artifacts due to the presence of a paralogue (highly similar duplicated) sequence in the genome. Using sequencing we showed how S

SUBMITTER: Musumeci L 

PROVIDER: S-EPMC2797835 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature