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http://hdl.handle.net/2445/7321
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DC Field | Value | Language |
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dc.contributor.author | González, Juan R. | cat |
dc.contributor.author | Carrasco Jordan, Josep Lluís | cat |
dc.contributor.author | Armengol, Lluís | cat |
dc.contributor.author | Villatoro, Sergi | cat |
dc.contributor.author | Jover Armengol, Lluís de | cat |
dc.contributor.author | Yasui, Yutaka | cat |
dc.contributor.author | Estivill, Xavier, 1955- | cat |
dc.date.accessioned | 2009-03-20T14:49:47Z | - |
dc.date.available | 2009-03-20T14:49:47Z | - |
dc.date.issued | 2008 | cat |
dc.identifier.issn | 1471-2105 | cat |
dc.identifier.uri | http://hdl.handle.net/2445/7321 | - |
dc.description.abstract | Background: MLPA method is a potentially useful semi-quantitative method to detect copy number alterations in targeted regions. In this paper, we propose a method for the normalization procedure based on a non-linear mixed-model, as well as a new approach for determining the statistical significance of altered probes based on linear mixed-model. This method establishes a threshold by using different tolerance intervals that accommodates the specific random error variability observed in each test sample. Results: Through simulation studies we have shown that our proposed method outperforms two existing methods that are based on simple threshold rules or iterative regression. We have illustrated the method using a controlled MLPA assay in which targeted regions are variable in copy number in individuals suffering from different disorders such as Prader-Willi, DiGeorge or Autism showing the best performace. Conclusion: Using the proposed mixed-model, we are able to determine thresholds to decide whether a region is altered. These threholds are specific for each individual, incorporating experimental variability, resulting in improved sensitivity and specificity as the examples with real data have revealed. | eng |
dc.format.extent | 15 p. | cat |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | eng |
dc.publisher | BioMed Central | cat |
dc.relation.isformatof | Reproducció del document publicat a http://dx.doi.org/10.1186/1471-2105-9-261 | cat |
dc.relation.ispartof | BMC Bioinformatics, 2008, vol. 9, núm. 261 | cat |
dc.relation.uri | http://dx.doi.org/10.1186/1471-2105-9-261 | - |
dc.rights | cc-by, (c) González et al., 2008 | cat |
dc.rights.uri | http://creativecommons.org/licenses/by/2.0/ | cat |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Genètica molecular | cat |
dc.subject.classification | Biotecnologia | cat |
dc.subject.other | Gene dosage | eng |
dc.subject.other | Molecular probe techniques | eng |
dc.title | Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) | eng |
dc.type | info:eu-repo/semantics/article | eng |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 562817 | cat |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 18522760 | - |
Appears in Collections: | Articles publicats en revistes (Medicina) |
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562817.pdf | 512.01 kB | Adobe PDF | View/Open |
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