ClassifyCNV: a tool for clinical annotation of copy-number variants
Abstract 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, man...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2020-11-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-020-76425-3 |