Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Copy number variants (CNVs) cause significant genomic variation in humans and may be benign or may cause disease. Here, the authors show that pathogenic CNVs are evolutionarily constrained compared with benign, pointing to dosage sensitivity as a potential cause of disease.
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2017-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/ncomms14366 |