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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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| Publicado no: | Genet Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | 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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