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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...

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Detalles Bibliográficos
Autores principales:	Lv, Kangqi, Chen, Dayang, Xiong, Dan, Tang, Huamei, Ou, Tong, Kan, Lijuan, Zhang, Xiuming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
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

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