The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

Next-generation mate-pair sequencing (MPS) has revealed that many constitutional complex chromosomal rearrangements (CCRs) are associated with local shattering of chromosomal regions (chromothripsis). Although MPS promises to identify the molecular basis of the abnormal phenotypes associated with ma...

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Detalles Bibliográficos
Autores principales: Nazaryan, Lusine, Stefanou, Eunice G, Hansen, Claus, Kosyakova, Nadezda, Bak, Mads, Sharkey, Freddie H, Mantziou, Theodora, Papanastasiou, Anastasios D, Velissariou, Voula, Liehr, Thomas, Syrrou, Maria, Tommerup, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925275/
https://www.ncbi.nlm.nih.gov/pubmed/23860044
http://dx.doi.org/10.1038/ejhg.2013.147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925275/
https://www.ncbi.nlm.nih.gov/pubmed/23860044
http://dx.doi.org/10.1038/ejhg.2013.147

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