相似文献
1
Methods and strategies for analyzing copy number variation using DNA microarrays.使用DNA微阵列分析拷贝数变异的方法和策略。
Nat Genet. 2007 Jul;39(7 Suppl):S16-21. doi: 10.1038/ng2028.
2
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.人类基因组中与拷贝数变异相关断点的系统预测与验证
Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):10110-5. doi: 10.1073/pnas.0703834104. Epub 2007 Jun 5.
3
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.使用高密度DNA寡核苷酸阵列进行全基因组人类拷贝数变异检测。
Genome Res. 2006 Dec;16(12):1575-84. doi: 10.1101/gr.5629106. Epub 2006 Nov 22.
4
Genetic predisposition in degenerative lumbar scoliosis due to the copy number variation.由于拷贝数变异导致的退变性腰椎侧凸的遗传易感性。
Spine (Phila Pa 1976). 2011 Oct 1;36(21):1782-93. doi: 10.1097/BRS.0b013e318221a65f.
5
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians.在 90 名约鲁巴尼日利亚人中高分辨率发现和确认拷贝数变异。
Genome Biol. 2009;10(11):R125. doi: 10.1186/gb-2009-10-11-r125. Epub 2009 Nov 9.
6
Global variation in copy number in the human genome.人类基因组中拷贝数的全球变异。
Nature. 2006 Nov 23;444(7118):444-54. doi: 10.1038/nature05329.
7
Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer.联合阵列比较基因组杂交和单核苷酸多态性杂合性缺失分析揭示了宫颈癌复杂的基因改变。
BMC Genomics. 2007 Feb 20;8:53. doi: 10.1186/1471-2164-8-53.
8
Assembly of microarrays for genome-wide measurement of DNA copy number.用于全基因组DNA拷贝数测量的微阵列组装。
Nat Genet. 2001 Nov;29(3):263-4. doi: 10.1038/ng754.
9
Detecting copy number variation in the human genome using comparative genomic hybridization.使用比较基因组杂交技术检测人类基因组中的拷贝数变异。
Biotechniques. 2006 Oct;41(4):385, 387, 389 passim. doi: 10.2144/000112275.
10
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.遗传性疾病的拷贝数变异与临床细胞遗传学诊断
Nat Genet. 2007 Jul;39(7 Suppl):S48-54. doi: 10.1038/ng2092.
引用本文的文献
1
A Systematic Review of the Advances and New Insights into Copy Number Variations in Plant Genomes.植物基因组拷贝数变异研究进展与新见解的系统综述
Plants (Basel). 2025 May 6;14(9):1399. doi: 10.3390/plants14091399.
2
Copy number variations at the locus and their relationship with resistance to soybean cyst nematode ().该位点的拷贝数变异及其与大豆胞囊线虫抗性的关系。
Front Plant Sci. 2024 Dec 18;15:1504932. doi: 10.3389/fpls.2024.1504932. eCollection 2024.
3
Analytical Validation and Performance Evaluation of Amplicon-Based Next-Generation Sequencing Assays for Detecting and Other Gene Amplifications in Solid Tumors.用于检测实体瘤中基因扩增及其他基因扩增的基于扩增子的下一代测序检测方法的分析验证和性能评估
Cancers (Basel). 2024 Nov 23;16(23):3927. doi: 10.3390/cancers16233927.
4
A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.简短的临床遗传学综述：单基因疾病——高甘油三酯血症的逐步诊断过程
Transl Pediatr. 2024 Oct 1;13(10):1828-1848. doi: 10.21037/tp-24-131. Epub 2024 Oct 23.
5
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.临床外显子测序检测到的 CNVs 对疑似遗传性疾病具有较高的阳性预测值。
J Transl Med. 2024 Jul 9;22(1):644. doi: 10.1186/s12967-024-05468-1.
6
A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction.一种新型的 Cdh23 基因拷贝数变异导致严重的耳聋和前庭功能障碍。
Hum Mol Genet. 2024 Sep 19;33(19):1648-1659. doi: 10.1093/hmg/ddae095.
7
Phenotypic, Genomic, and Transcriptomic Heterogeneity in a Pancreatic Cancer Cell Line.胰腺癌细胞系的表型、基因组和转录组异质性。
Pancreas. 2024 Oct 1;53(9):e748-e759. doi: 10.1097/MPA.0000000000002371. Epub 2024 May 4.
8
Utility of metagenomic Next-Generation Sequencing for simultaneously detecting pathogens and neoplasms.宏基因组下一代测序在同时检测病原体和肿瘤方面的应用
Heliyon. 2024 Jan 10;10(2):e24399. doi: 10.1016/j.heliyon.2024.e24399. eCollection 2024 Jan 30.
9
Detection of copy number variations based on a local distance using next-generation sequencing data.基于局部距离利用下一代测序数据检测拷贝数变异。
Front Genet. 2023 Sep 22;14:1147761. doi: 10.3389/fgene.2023.1147761. eCollection 2023.
10
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.通过全外显子组测序（WES）数据分析进行胚系 CNV 检测可提高罕见遗传病的分辨率。
Genes (Basel). 2023 Jul 21;14(7):1490. doi: 10.3390/genes14071490.
本文引用的文献
1
Challenges and standards in integrating surveys of structural variation.整合结构变异调查中的挑战与标准
Nat Genet. 2007 Jul;39(7 Suppl):S7-15. doi: 10.1038/ng2093.
2
A comprehensive analysis of common copy-number variations in the human genome.对人类基因组中常见拷贝数变异的综合分析。
Am J Hum Genet. 2007 Jan;80(1):91-104. doi: 10.1086/510560. Epub 2006 Dec 5.
3
Global variation in copy number in the human genome.人类基因组中拷贝数的全球变异。
Nature. 2006 Nov 23;444(7118):444-54. doi: 10.1038/nature05329.
4
Accurate and reliable high-throughput detection of copy number variation in the human genome.人类基因组中拷贝数变异的准确可靠的高通量检测。
Genome Res. 2006 Dec;16(12):1566-74. doi: 10.1101/gr.5630906. Epub 2006 Nov 22.
5
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.使用高密度DNA寡核苷酸阵列进行全基因组人类拷贝数变异检测。
Genome Res. 2006 Dec;16(12):1575-84. doi: 10.1101/gr.5629106. Epub 2006 Nov 22.
6
Genome assembly comparison identifies structural variants in the human genome.基因组组装比较可识别出人类基因组中的结构变异。
Nat Genet. 2006 Dec;38(12):1413-8. doi: 10.1038/ng1921. Epub 2006 Nov 22.
7
Ultra-high resolution array painting facilitates breakpoint sequencing.超高分辨率阵列描绘有助于断点测序。
J Med Genet. 2007 Jan;44(1):51-8. doi: 10.1136/jmg.2006.044909. Epub 2006 Sep 13.
8
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.人类基因组重复区域内拷贝数多态性的连锁不平衡与遗传力
Am J Hum Genet. 2006 Aug;79(2):275-90. doi: 10.1086/505653. Epub 2006 Jun 15.
9
Copy number variation: new insights in genome diversity.拷贝数变异：基因组多样性的新见解
Genome Res. 2006 Aug;16(8):949-61. doi: 10.1101/gr.3677206. Epub 2006 Jun 29.
10
Structural variation of the human genome.人类基因组的结构变异
Annu Rev Genomics Hum Genet. 2006;7:407-42. doi: 10.1146/annurev.genom.7.080505.115618.
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