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ClassifyCNV: a tool for clinical annotation of copy-number variants
Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements. Accurate identification and clinical annotation of CNVs is essential, however, manual evalu...
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| Publicado no: | Sci Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7683568/ https://ncbi.nlm.nih.gov/pubmed/33230148 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-76425-3 |
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