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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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| Опубликовано в: : | Genet Med |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2014
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| Предметы: | |
| Online-ссылка: | 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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