Cited by 209Genomic variations and chromosomal abnormalitiesGenetic Associations and EpidemiologyGenomics and Rare Diseases

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Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

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Ionita-Laza, Iuliana, Rogers, Angela J., Lange, Christoph, Raby, Benjamin A., Lee, Charles·2009·Genomics

DOI 10.1016/j.ygeno.2008.08.012PMC PMC2631358

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Abstract

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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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
ORCID: Rogers, Angela J.
Lange, Christoph
Raby, Benjamin A.
Lee, Charles
Venue: Genomics
Publisher: Elsevier BV
Published: 2009-01
Volume: 93
Issue: 1
Pages: 22-26
ISSN: 0888-7543 (ISSN-L)
DOI: 10.1016/j.ygeno.2008.08.012
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1694 d)
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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Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

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