Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (<1Kb), a significant proportion of genetic variability is due to copy number variation (CNV). The possible role of CNV in monogenic and complex diseases has recently...

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Detalles Bibliográficos
Autores principales: Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422275/
https://www.ncbi.nlm.nih.gov/pubmed/22912880
http://dx.doi.org/10.1371/journal.pone.0043466

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422275/
https://www.ncbi.nlm.nih.gov/pubmed/22912880
http://dx.doi.org/10.1371/journal.pone.0043466

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