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dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations
BACKGROUND: Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and clinical phenotypes. ClassifyCNV, X-CNV, Str...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029177/ https://www.ncbi.nlm.nih.gov/pubmed/36941551 http://dx.doi.org/10.1186/s12864-023-09225-4 |