Division of Structural and Functional Genomics, Division of Bio-Medical informatics, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, Korea.
Bioinformatics. 2013 Jun 1;29(11):1481-3. doi: 10.1093/bioinformatics/btt173. Epub 2013 Apr 26.
Despite a growing interest in a correlation between copy number variations (CNVs) and flanking single nucleotide polymorphisms, few databases provide such information. In particular, most information on CNV available so far was obtained in Caucasian and Yoruba populations, and little is known about CNV in Asian populations. This article presents a database that provides CNV regions tagged by single nucleotide polymorphisms in about 4700 Koreans, which were detected under strict quality control, manually curated and experimentally validated.
KGVDB is freely available for non-commercial use at http://biomi.cdc.go.kr/KGVDB.
Supplementary data are available at Bioinformatics online.
尽管人们越来越关注拷贝数变异(CNVs)与侧翼单核苷酸多态性之间的相关性,但很少有数据库提供此类信息。特别是,到目前为止,大多数关于 CNV 的信息都是在白人和约鲁巴人群中获得的,而关于亚洲人群中 CNV 的信息则知之甚少。本文介绍了一个数据库,该数据库提供了约 4700 名韩国人经严格质量控制、手动整理和实验验证后,由单核苷酸多态性标记的 CNV 区域。
KGVDb 可在 http://biomi.cdc.go.kr/KGVDB 上免费供非商业使用。
补充数据可在 Bioinformatics 在线获得。