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SG-ADVISER CNV: copy-number variant annotation and interpretation

PURPOSE: Copy-number variants have been associated with a variety of diseases, especially cancer, autism, schizophrenia, and developmental delay. The majority of clinically relevant events occur de novo, necessitating the interpretation of novel events. In this light, we present the Scripps Genome A...

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Detalles Bibliográficos
Publicado en:Genet Med
Autores principales: Erikson, Galina A., Deshpande, Neha, Kesavan, Balachandar G., Torkamani, Ali
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4886732/
https://ncbi.nlm.nih.gov/pubmed/25521334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.180
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