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...
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| Main Authors: | , |
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| Format: | article |
| Language: | EN |
| Published: |
Nature Portfolio
2020
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| Subjects: | |
| Online Access: | https://doaj.org/article/75b37ccd5df5499b8659219af7988a85 |
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