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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
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1994 1
1996 1
2004 1
2005 3
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2007 6
2008 27
2009 27
2010 54
2011 57
2012 41
2013 56
2014 86
2015 73
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984 results

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VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK. Koboldt DC, et al. Genome Res. 2012 Mar;22(3):568-76. doi: 10.1101/gr.129684.111. Epub 2012 Feb 2. Genome Res. 2012. PMID: 22300766 Free PMC article.
Cancer is a disease driven by genetic variation and mutation. Exome sequencing can be utilized for discovering these variants and mutations across hundreds of tumors. Here we present an analysis tool, VarScan 2, for the detection of somatic mutations and copy num …
Cancer is a disease driven by genetic variation and mutation. Exome sequencing can be utilized for discovering these variants and mut …
CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data.
Söylev A, Çokoglu SS, Koptekin D, Alkan C, Somel M. Söylev A, et al. PLoS Comput Biol. 2022 Dec 14;18(12):e1010788. doi: 10.1371/journal.pcbi.1010788. eCollection 2022 Dec. PLoS Comput Biol. 2022. PMID: 36516232 Free PMC article.
To date, ancient genome analyses have been largely confined to the study of single nucleotide polymorphisms (SNPs). Copy number variants (CNVs) are a major contributor of disease and of evolutionary adaptation, but identifying CNVs in ancient shotgun-sequenced genom …
To date, ancient genome analyses have been largely confined to the study of single nucleotide polymorphisms (SNPs). Copy number …
Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity.
Turner KM, Deshpande V, Beyter D, Koga T, Rusert J, Lee C, Li B, Arden K, Ren B, Nathanson DA, Kornblum HI, Taylor MD, Kaushal S, Cavenee WK, Wechsler-Reya R, Furnari FB, Vandenberg SR, Rao PN, Wahl GM, Bafna V, Mischel PS. Turner KM, et al. Nature. 2017 Mar 2;543(7643):122-125. doi: 10.1038/nature21356. Epub 2017 Feb 8. Nature. 2017. PMID: 28178237 Free PMC article.
In cancer, however, genes can be amplified in chromosomes or in circular extrachromosomal DNA (ecDNA), although the frequency and functional importance of ecDNA are not understood. ...Mathematical modelling predicted that ecDNA amplification would increase oncogene copy …
In cancer, however, genes can be amplified in chromosomes or in circular extrachromosomal DNA (ecDNA), although the frequency and fun …
The relationship between MUC19 copy number variation and growth traits of Chinese cattle.
Chen Y, Peng W, Zhang Z, Liu X, Yang P, Fu C, Zhang J, Wang H, Zhou S, Lei C, Wang E, Huang Y. Chen Y, et al. Gene. 2023 Jan 30;851:147010. doi: 10.1016/j.gene.2022.147010. Epub 2022 Oct 28. Gene. 2023. PMID: 36349576 Review.
Copy number variation (CNV), as one of the important variations in the biological genome, refers to the deletion and duplication of genomic segments between 1 kb and 50 kb caused by genomic rearrangements. Currently, many copy number v …
Copy number variation (CNV), as one of the important variations in the biological genome, refers to the deletion …
Copy number variation (CNV) of the AHR gene in the Ashidan yak and its association with growth traits.
Dai R, Huang C, Wu X, Ma X, Chu M, Bao P, Pei J, Guo X, Yan P, Liang C. Dai R, et al. Gene. 2022 Jun 5;826:146454. doi: 10.1016/j.gene.2022.146454. Epub 2022 Mar 30. Gene. 2022. PMID: 35367304
Copy number variation (CNV) is a principal genomic structure variation affecting the gene expression through the dose-effect and change of gene regulatory region. ...The CNV of the yaks was analyzed using real-time quantitative PCR, and the correlation …
Copy number variation (CNV) is a principal genomic structure variation affecting the gene expression through the …
Copy number variation of the HPGDS gene in the Ashidan yak and its associations with growth traits.
Huang C, Ge F, Ren W, Zhang Y, Wu X, Zhang Q, Ma X, Bao P, Guo X, Chu M, Yan P, Liang C. Huang C, et al. Gene. 2021 Mar 10;772:145382. doi: 10.1016/j.gene.2020.145382. Epub 2020 Dec 26. Gene. 2021. PMID: 33373661
Copy number variation (CNV) is a structural variation at the submicroscopic level of the genome, which can affect gene-related phenotypes by changing genes dosage and transcript structure. ...Additionally, the individuals with gain copy numbe …
Copy number variation (CNV) is a structural variation at the submicroscopic level of the genome, which can affec …
Inferring tumour purity and stromal and immune cell admixture from expression data.
Yoshihara K, Shahmoradgoli M, Martínez E, Vegesna R, Kim H, Torres-Garcia W, Treviño V, Shen H, Laird PW, Levine DA, Carter SL, Getz G, Stemke-Hale K, Mills GB, Verhaak RG. Yoshihara K, et al. Nat Commun. 2013;4:2612. doi: 10.1038/ncomms3612. Nat Commun. 2013. PMID: 24113773 Free PMC article.
Here we describe 'Estimation of STromal and Immune cells in MAlignant Tumours using Expression data' (ESTIMATE)--a method that uses gene expression signatures to infer the fraction of stromal and immune cells in tumour samples. ESTIMATE scores correlate with DNA copy …
Here we describe 'Estimation of STromal and Immune cells in MAlignant Tumours using Expression data' (ESTIMATE)--a method that uses gene exp …
An accurate and powerful method for copy number variation detection.
Xiao F, Luo X, Hao N, Niu YS, Xiao X, Cai G, Amos CI, Zhang H. Xiao F, et al. Bioinformatics. 2019 Sep 1;35(17):2891-2898. doi: 10.1093/bioinformatics/bty1041. Bioinformatics. 2019. PMID: 30649252 Free PMC article.
MOTIVATION: Integration of multiple genetic sources for copy number variation detection (CNV) is a powerful approach to improve the identification of variants associated with complex traits. ...We previously developed modSaRa, a normal mean-based model on a s …
MOTIVATION: Integration of multiple genetic sources for copy number variation detection (CNV) is a powerful approach to …
Association between complement 4 copy number variation and systemic lupus erythematosus: a meta-analysis.
Wu Z, Zhang S, Li P, Zhang F, Li Y. Wu Z, et al. Clin Exp Med. 2020 Nov;20(4):627-634. doi: 10.1007/s10238-020-00640-5. Epub 2020 Jul 20. Clin Exp Med. 2020. PMID: 32691186
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multiple genetic mutations. Complement 4 (C4) copy number variation (CNV) is a target-of-interest located on chromosome 6. ...Associations between C4 CNV and SLE were estimate …
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multiple genetic mutations. Complement 4 (C4) copy …
Genome-Wide Copy Number Variation Detection Using NGS: Data Analysis and Interpretation.
Shen W, Szankasi P, Durtschi J, Kelley TW, Xu X. Shen W, et al. Methods Mol Biol. 2019;1908:113-124. doi: 10.1007/978-1-4939-9004-7_8. Methods Mol Biol. 2019. PMID: 30649724
Copy number variants (CNVs) and copy neutral loss of heterozygosity (CN-LOH) represent important types of genomic abnormalities in cancer. Genomic DNA microarray serves as the current gold standard method for detecting genome-wide CNVs and CN-LOH. ...
Copy number variants (CNVs) and copy neutral loss of heterozygosity (CN-LOH) represent important types of genomic abnor …
984 results