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Copy number variation accuracy in genome-wide association studies.全基因组关联研究中的拷贝数变异准确性。
Hum Hered. 2011;71(3):141-7. doi: 10.1159/000324683. Epub 2011 Jul 20.
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Family-Based Benchmarking of Copy Number Variation Detection Software.基于家族的拷贝数变异检测软件基准测试
PLoS One. 2015 Jul 21;10(7):e0133465. doi: 10.1371/journal.pone.0133465. eCollection 2015.
3
Characterization of copy number variants in a large multibreed population of beef and dairy cattle using high-density single nucleotide polymorphism genotype data.利用高密度单核苷酸多态性基因型数据对大型肉牛和奶牛多品种群体中的拷贝数变异进行特征分析。
J Anim Sci. 2018 Sep 29;96(10):4112-4124. doi: 10.1093/jas/sky302.
4
Genome-wide algorithm for detecting CNV associations with diseases.全基因组算法检测与疾病相关的 CNV 关联。
BMC Bioinformatics. 2011 Aug 9;12:331. doi: 10.1186/1471-2105-12-331.
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Software comparison for evaluating genomic copy number variation for Affymetrix 6.0 SNP array platform.用于评估 Affymetrix 6.0 SNP 阵列平台的基因组拷贝数变异的软件比较。
BMC Bioinformatics. 2011 May 31;12:220. doi: 10.1186/1471-2105-12-220.
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Evaluation of copy number variation detection for a SNP array platform.SNP 芯片平台拷贝数变异检测评估。
BMC Bioinformatics. 2014 Feb 21;15:50. doi: 10.1186/1471-2105-15-50.
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Accuracy of CNV Detection from GWAS Data.从 GWAS 数据中检测 CNV 的准确性。
PLoS One. 2011 Jan 13;6(1):e14511. doi: 10.1371/journal.pone.0014511.
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The effect of algorithms on copy number variant detection.算法对拷贝数变异检测的影响。
PLoS One. 2010 Dec 30;5(12):e14456. doi: 10.1371/journal.pone.0014456.
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Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients.全基因组分析显示荷兰精神分裂症患者的拷贝数变异缺失频率增加。
Biol Psychiatry. 2011 Oct 1;70(7):655-62. doi: 10.1016/j.biopsych.2011.02.015. Epub 2011 Apr 13.
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Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence.6q14.1 和 5q13.2 上的拷贝数变异与酒精依赖有关。
Alcohol Clin Exp Res. 2012 Sep;36(9):1512-8. doi: 10.1111/j.1530-0277.2012.01758.x. Epub 2012 Jun 15.
引用本文的文献
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Mapping copy number variable regions correlated with reproduction and production traits in Karan Fries cattle mammalian genomics.绘制与卡兰·弗里斯牛繁殖和生产性状相关的拷贝数可变区域 哺乳动物基因组学
Mamm Genome. 2025 Aug 15. doi: 10.1007/s00335-025-10152-w.
2
Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio.人多能干细胞中的染色体质量控制：使用GenomeStudio进行SNP阵列分析的实用指南。
Front Cell Dev Biol. 2025 Jul 1;13:1599923. doi: 10.3389/fcell.2025.1599923. eCollection 2025.
3
A novel scatterplot-based method to detect copy number variation (CNV).一种基于散点图的新型拷贝数变异（CNV）检测方法。
Front Genet. 2023 Jul 6;14:1166972. doi: 10.3389/fgene.2023.1166972. eCollection 2023.
4
Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.充分利用 SNP 阵列：提取潜在基因组结构的工具的系统评价。
Brief Bioinform. 2022 Mar 10;23(2). doi: 10.1093/bib/bbac043.
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A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.对 SNPs 和 CNVs 的全面分析确定了与结直肠癌疾病结果相关的新型标记物。
Mol Oncol. 2021 Dec;15(12):3329-3347. doi: 10.1002/1878-0261.13067. Epub 2021 Aug 5.
6
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.一种从外显子测序数据中检测罕见拷贝数变异的高灵敏度和特异性工作流程。
Genome Med. 2020 Jan 30;12(1):14. doi: 10.1186/s13073-020-0712-0.
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Identifying Potential Regions of Copy Number Variation for Bipolar Disorder.识别双相情感障碍的潜在拷贝数变异区域
Microarrays (Basel). 2014 Feb 28;3(1):52-71. doi: 10.3390/microarrays3010052.
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The Role of Constitutional Copy Number Variants in Breast Cancer.体质性拷贝数变异在乳腺癌中的作用
Microarrays (Basel). 2015 Sep 8;4(3):407-23. doi: 10.3390/microarrays4030407.
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The association of copy number variation and percent mammographic density.拷贝数变异与乳腺X线摄影密度百分比的关联。
BMC Res Notes. 2015 Jul 8;8:297. doi: 10.1186/s13104-015-1212-y.
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On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis.关于影响体重指数的常见和罕见基因变异的关联：一项单核苷酸多态性（SNP）与拷贝数变异（CNV）的联合分析
BMC Genomics. 2014 May 14;15(1):368. doi: 10.1186/1471-2164-15-368.
本文引用的文献
1
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.
2
A new statistic to evaluate imputation reliability.一种评估插补可靠性的新统计量。
PLoS One. 2010 Mar 15;5(3):e9697. doi: 10.1371/journal.pone.0009697.
3
A genome-wide association study of alcohol dependence.一项关于酒精依赖的全基因组关联研究。
Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5082-7. doi: 10.1073/pnas.0911109107. Epub 2010 Mar 2.
4
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.七种基于单核苷酸多态性微阵列的拷贝数变异识别算法的比较分析。
Nucleic Acids Res. 2010 May;38(9):e105. doi: 10.1093/nar/gkq040. Epub 2010 Feb 8.
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The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.基因-环境关联研究联盟（GENEVA）：通过跨多种疾病研究的合作，最大化从 GWAS 中获得的知识。
Genet Epidemiol. 2010 May;34(4):364-72. doi: 10.1002/gepi.20492.
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The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.拷贝数变异在肌萎缩侧索硬化易感性中的作用：全基因组关联研究及与已发表基因座的比较。
PLoS One. 2009 Dec 4;4(12):e8175. doi: 10.1371/journal.pone.0008175.
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Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.高加索人群和亚洲人群中拷贝数变异的全基因组分布和种族分化。
PLoS One. 2009 Nov 23;4(11):e7958. doi: 10.1371/journal.pone.0007958.
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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
Comparing CNV detection methods for SNP arrays.比较单核苷酸多态性（SNP）阵列的拷贝数变异（CNV）检测方法。
Brief Funct Genomic Proteomic. 2009 Sep;8(5):353-66. doi: 10.1093/bfgp/elp017. Epub 2009 Sep 8.
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Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays.使用高分辨率SNP阵列检测子宫平滑肌瘤中的新型拷贝数变异
Mol Hum Reprod. 2009 Sep;15(9):563-8. doi: 10.1093/molehr/gap050. Epub 2009 Jun 30.
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