Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
Open accessAbstract
Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability and the importance of structural genetic variants in modulating human disease is increasingly being recognized. Early successes in identifying disease-associated CNVs via a candidate gene approach mandate that future disease association studies need to include structural genetic variation. Such analyses should not rely on previously developed methodologies that were designed to evaluate single nucleotide polymorphisms (SNPs). Instead, development of novel technical, statistical, and epidemiologic methods will be necessary to optimally capture this newly-appreciated form of genetic variation in a meaningful manner.
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CNV measurements are used for routine screening in clinical diagnostics and their analysis can assist in subsequent prognostic monitoring.
“CNV measurements are used for routine screening in clinical diagnostics and their analysis can assist in subsequent prognostic monitoring (6,7).”
From Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation (2012) · cites this paper as [7]
The Technical Challenges and Statistical Challenges sections discuss CNV detection and measurements for disease-association research, not routine clinical diagnostic screening. The Conclusions discuss possible future therapies, but do not address prognostic monitoring. Searches for clinical screening, diagnosis, and prognosis found no passage supporting the attributed uses; page numbers were not provided in our copy. (LLM, conf=0.75)
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- Authors
- Ionita-Laza, I., Rogers, A. J., Lange, C., Raby, B. A., & Lee, C.
- Affiliations
- Brigham and Women's Hospital (US)
- Corresponding author
- Lee, Charles
- Venue
- Genomics
- Publisher
- Elsevier BV
- Published
- 2009-01
- Volume
- 93
- Issue
- 1
- Pages
- 22-26
- ISSN
- 0888-7543 (ISSN-L)
- PMC
- PMC2631358
- OpenAlex
- W2003438077
- Cited by
- 198
- References
- 57
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 1 · 2023: 10 · 2022: 7 · 2021: 9 · 2020: 6 · 2019: 8 · 2018: 13 · 2017: 14 · 2016: 7 · 2015: 11 · 2014: 12 · 2013: 19 · 2012: 14
- FWCI
- 11.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genomics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5p41hg004221-03, 5r01ca111560-05)
- National Human Genome Research Institute (P41-HG004221)
- National Cancer Institute (R01-CA111560)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- copy number variation, genetic association studies, pathogenesis, candidate gene approach, single nucleotide polymorphisms
- MeSH terms
- Humans, Genetic Variation, Genome, Human, Gene Dosage, Genetic Predisposition to Disease, Genome-Wide Association Study
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