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Programmable Nuclease-Based Integration into Novel Extragenic Genomic Safe Harbor Identified from Korean Population-Based CNV Analysis.基于可编程核酸酶整合到从韩国人群CNV分析中鉴定出的新型基因外基因组安全港。
Mol Ther Oncolytics. 2019 Jul 23;14:253-265. doi: 10.1016/j.omto.2019.07.001. eCollection 2019 Sep 27.
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On the association analysis of CNV data: a fast and robust family-based association method.关于拷贝数变异（CNV）数据的关联分析：一种快速且稳健的基于家系的关联方法。
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本文引用的文献

1
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.研究 CNVs 作为性状相关多态性和表达数量性状基因座。
PLoS Genet. 2011 Feb 3;7(2):e1001292. doi: 10.1371/journal.pgen.1001292.
2
Mapping copy number variation by population-scale genome sequencing.通过群体规模的基因组测序来绘制拷贝数变异图谱。
Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708.
3
Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.通过全基因组分析发现 11q11 染色体上与早发性极度肥胖相关的新型常见拷贝数变异。
Hum Mol Genet. 2011 Feb 15;20(4):840-52. doi: 10.1093/hmg/ddq518. Epub 2010 Dec 2.
4
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.拷贝数变异的测量方法和准确性：未能复制β-防御素拷贝数与克罗恩病的关联。
Hum Mol Genet. 2010 Dec 15;19(24):4930-8. doi: 10.1093/hmg/ddq411. Epub 2010 Sep 21.
5
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.利用整合的高分辨率 array CGH 和大规模并行 DNA 测序发现常见的亚洲拷贝数变异。
Nat Genet. 2010 May;42(5):400-5. doi: 10.1038/ng.555. Epub 2010 Apr 4.
6
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.全基因组关联研究分析了 16000 例 8 种常见疾病和 3000 例共享对照的 CNVs。
Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979.
7
SCAN: SNP and copy number annotation.扫描：单核苷酸多态性和拷贝数注释。
Bioinformatics. 2010 Jan 15;26(2):259-62. doi: 10.1093/bioinformatics/btp644. Epub 2009 Nov 17.
8
Origins and functional impact of copy number variation in the human genome.人类基因组中拷贝数变异的起源和功能影响。
Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.
9
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.人类基因组中拷贝数变异的高分辨率图谱绘制与分析：临床及研究应用的数据资源。
Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.全基因组关联位点对人类疾病和性状的潜在病因学及功能影响。
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KGVDB：韩国人群基于 SNP 标记 CNV 的基因组图谱。

KGVDB: a population-based genomic map of CNVs tagged by SNPs in Koreans.

机构信息

Division of Structural and Functional Genomics, Division of Bio-Medical informatics, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, Korea.

出版信息

Bioinformatics. 2013 Jun 1;29(11):1481-3. doi: 10.1093/bioinformatics/btt173. Epub 2013 Apr 26.

DOI:10.1093/bioinformatics/btt173
PMID:23626002
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3661059/
Abstract

SUMMARY

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.

AVAILABILITY

KGVDB is freely available for non-commercial use at http://biomi.cdc.go.kr/KGVDB.

SUPPLEMENTARY INFORMATION

Supplementary data are available at Bioinformatics online.

摘要

摘要

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。

可用性

KGVDb 可在 http://biomi.cdc.go.kr/KGVDB 上免费供非商业使用。

补充信息

补充数据可在 Bioinformatics 在线获得。