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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Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2014
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925275/
https://ncbi.nlm.nih.gov/pubmed/23860044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.147
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