Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism

Hisanori Haga; Ryo Yamada; Yozo Ohnishi; Yusuke Nakamura; Toshihiro Tanaka

doi:10.1007/s100380200092

Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism

J Hum Genet. 2002;47(11):605-10. doi: 10.1007/s100380200092.

Authors

Hisanori Haga¹, Ryo Yamada, Yozo Ohnishi, Yusuke Nakamura, Toshihiro Tanaka

Affiliation

¹ Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Japan.

PMID: 12436197
DOI: 10.1007/s100380200092

Abstract

To construct an infrastructure for genome-wide association studies of common diseases or drug sensitivities, we have been systematically exploring common variants by resequencing genomic regions containing genes in DNA from 24 Japanese individuals. We have analyzed a total of 154 Mb, corresponding to approximately 5% of the human genome, and so far have identified 174,269 single-nucleotide polymorphisms and 16,293 insertion/deletion polymorphisms within gene regions, i.e., one polymorphism in 807 bp on average. Our data are freely available via our web site (http://snp.ims.u-tokyo.ac.jp) and will facilitate studies to identify genes associated with susceptibility to common diseases and genes involved in sensitivity to therapeutic drugs.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Gene Frequency
Genetic Variation*
Genome, Human*
Human Genome Project
Humans
Japan
Polymerase Chain Reaction
Polymorphism, Single Nucleotide*