Journal Article

Single-nucleotide polymorphisms in the public domain: how useful are they?

Minton, Matthew, Kwok, Pui-Yan, Davenport, Ruth, Miller, Raymond D., Li, Qun, Duan, Shenghui, Marth, Gabor, Yeh, Raymond, Donaldson, Rachel

2001

Overview

There is a concerted effort by a number of public and private groups to identify a large set of human single-nucleotide polymorphisms 1 , 2 (SNPs). As of March 2001, 2.84 million SNPs have been deposited in the public database, dbSNP, at the National Center for Biotechnology Information ( http://www.ncbi.nlm.nih.gov/SNP/ ). The 2.84 million SNPs can be grouped into 1.65 million non-redundant SNPs. As part of the International SNP Map Working Group, we recently published a high-density SNP map of the human genome consisting of 1.42 million SNPs (ref. 3 ). In addition, numerous SNPs are maintained in proprietary databases. Our survey of more than 1,200 SNPs indicates that more than 80% of TSC and Washington University candidate SNPs are polymorphic and that approximately 50% of the candidate SNPs from these two sources are common SNPs (with minor allele frequency of ≥20%) in any given population.

• Publisher: Nature Publishing Group US,Nature Publishing Group
• Subject: Agriculture / Animal Genetics and Genomics / Biological and medical sciences / Biomedical and Life Sciences / Biomedicine / Biotechnology / brief-communication / Cancer Research / Cloning / DNA - genetics / DNA sequencing / Fundamental and applied biological sciences. Psychology / Gene Function / Genetics of eukaryotes. Biological and molecular evolution / Genomes / Human / Human Genetics / Humans / Identification and classification / Methods / Nucleotide sequencing / Physiological aspects / Polymerase Chain Reaction / Polymorphism, Single Nucleotide / Population genetics, reproduction patterns / Public domain / Radiation / Single nucleotide polymorphisms / White people