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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7683568/ https://www.ncbi.nlm.nih.gov/pubmed/33230148 http://dx.doi.org/10.1038/s41598-020-76425-3 |