Sensitive Quantification of Mosaicism Using High Density SNP Arrays and the Cumulative Distribution Function

Medicine is rapidly applying exome and genome sequencing to the diagnosis and management of human disease. Somatic mosaicism, however, is not readily detectable by these means, and yet it accounts for a significant portion of undiagnosed disease. We present a rapid and sensitive method, the Continuo...

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Detalhes bibliográficos
Main Authors: Markello, Thomas C., Carlson-Donohoe, Hannah, Sincan, Murat, Adams, David, Bodine, David M., Farrar, Jason E., Vlachos, Adrianna, Lipton, Jeffrey M., Auerbach, Arleen D., Ostrander, Elaine A., Chandrasekharappa, Settara C., Boerkoel, Cornelius F., Gahl, William A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309164/
https://ncbi.nlm.nih.gov/pubmed/22277120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.12.015
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