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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:
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