Benign copy number changes in clinical cytogenetic diagnostics by array CGH
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Summary
Observations of apparently benign copy number variants detected by a Spectral Genomics Inc./PerkinElmer BAC array platform and their frequencies were generally consistent with those of other previously published and available databases, including the Database of Genomic Variants.
- Type
- article
- Published
- 2009-03-01
- Cited by
- 11
- References
- 24
- Access
- Open access
- OpenAlex
- https://openalex.org/W2062965527
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:6304275
Keywords
Copy-number variation, Copy number analysis, Comparative genomic hybridization, Biology, Breakpoint
References
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- Efficient Calculation of Interval Scores for DNA Copy Number Data Analysis
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- Methods and strategies for analyzing copy number variation using DNA microarrays
- Mapping and sequencing of structural variation from eight human genomes
- Genotype, haplotype and copy-number variation in worldwide human populations
- Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation
- Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis
- Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
- Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
- Detection of large-scale variation in the human genome
- Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?
- Large-Scale Copy Number Polymorphism in the Human Genome
- The fine-scale and complex architecture of human copy-number variation.
- Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years.
- Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
- Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.
- Global variation in copy number in the human genome
- A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
Cited by
- The functional impact of copy number variation in the human genome
- Copy Number Variation and Disease
- Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2
- Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge
- A Novel Pseudo-Dicentric Variant of 16p11.2–q11.2 Contains Euchromatin from 16p11.2–p11.1 and Resembles Pathogenic Duplications of Proximal 16q
- Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin
- Array Comparative Genomic Hybridization for Genetic Evaluation of Fetal Loss Between 10 and 20 Weeks of Gestation
- 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
- Amplification ratio control system for copy number variation genotyping
- 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
- Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
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