Detection of structural mosaicism from targeted and whole-genome sequencing data

Structural mosaic abnormalities are large post-zygotic mutations present in a subset of cells and have been implicated in developmental disorders and cancer. Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray testing. Modern disease studies rely...

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Detalles Bibliográficos
Autores principales: King, Daniel A., Sifrim, Alejandro, Fitzgerald, Tomas W., Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G., Shehla, Mohammed, Tomkins, Susan E., Vasudevan, Pradeep C., Hurles, Matthew E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630034/
https://www.ncbi.nlm.nih.gov/pubmed/28855261
http://dx.doi.org/10.1101/gr.212373.116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630034/
https://www.ncbi.nlm.nih.gov/pubmed/28855261
http://dx.doi.org/10.1101/gr.212373.116

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