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AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) presented technical standards for interpretation and reporting of constitutional copy-number variants in 2019 (the standards). Although ClinGen developed a web-based CNV classification...

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Detalles Bibliográficos
Autores principales:	Fan, Chunna, Wang, Zhonghua, Sun, Yan, Sun, Jun, Liu, Xi, Kang, Licheng, Xu, Yingshuo, Yang, Manqiu, Dai, Wentao, Song, Lijie, Wei, Xiaoming, Xiang, Jiale, Huang, Hui, Zhou, Meizhen, Zeng, Fanwei, Huang, Lin, Xu, Zhengfeng, Peng, Zhiyu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496072/ https://www.ncbi.nlm.nih.gov/pubmed/34615484 http://dx.doi.org/10.1186/s12864-021-08011-4

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