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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 1 - 7 (7page)
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The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.
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참고문헌 (46)
참고문헌 신청
Aitman, T.J. / 2006 / Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans / Nature 439:851~855
Barrett, M.T. / 2004 / Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA / Proc. Natl. Acad. Sci. U. S. A 101:17765~17770
Bennett, S.T. / 2005 / Toward the 1,000 dollars human genome / Pharmacogenomics 6:373~382
Bruce, S / 2005 / Global analysis of uniparental disomy using high density genotyping arrays / J. Med. Genet 42(2):847~851
Buckley, P.G. / 2005 / Copy-number polymorphisms: mining the tip of an iceberg / Trends Genet 21:315~31
Barrett, M.T. / 2004 / Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA / Proc. Natl. Acad. Sci. U. S. A 101:17765~17770
Bennett, S.T. / 2005 / Toward the 1,000 dollars human genome / Pharmacogenomics 6:373~382
Bruce, S / 2005 / Global analysis of uniparental disomy using high density genotyping arrays / J. Med. Genet 42(2):847~851
Buckley, P.G. / 2005 / Copy-number polymorphisms: mining the tip of an iceberg / Trends Genet 21:315~31
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Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data
Genomics & informatics
2012 .01
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Genome Architecture and Its Roles in Human Copy Number Variation
Genomics & informatics
2014 .01
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Comparison of the Affymetrix SNP Array 5.0 and Oligoarray Platforms for Defining CNV
Genomics & informatics
2010 .01
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Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on F-statistics
Genomics & informatics
2012 .01
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Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population
Genomics & informatics
2011 .01
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A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans
Experimental and Molecular Medicine
2009 .01
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Web-Based Database and Viewer of East Asian Copy Number Variations
Genomics & informatics
2012 .01
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Comparison of Normalization Methods for Defining Copy Number Variation Using Whole-genome SNP Genotyping Data
Genomics & informatics
2008 .01
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Replication of the Association between Copy Number Variation on 8p23.1 and Autism by Using ASD-specific BAC Array
Genomics & informatics
2010 .01
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A Genome-wide Association Study of Copy Number Variation in Hematological Parameters in the Korean Population
Genomics & informatics
2010 .01
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Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12
Animal cells and systems
2011 .01
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Clinical implication of structural variation in human genome
한국유전체학회 Conference
2006 .01
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CGHscape: A Software Framework for the Detection and Visualization of Copy Number Alterations
Genomics & informatics
2008 .01
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Deletion Polymorphism of UGT2B17 and Its Relation to Lung Cancer
생명과학회지
2010 .05
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Detection of Single Nucleotide Polymorphism in Human IL-4 Receptor by PCR Amplification of Specific Alleles
Korean journal of biological sciences
2001 .01
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DNA Variation and Disease
한국유전체학회 Conference
2005 .01
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Human Genome Project & Post-Genome era
한국동물학회 학술대회
2001 .01
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Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population
Genomics & informatics
2007 .01
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550,000 tag SNP markers for Genome-wide association studies
한국유전체학회 Conference
2006 .01
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