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

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

Abstract 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 classi...

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Bibliographic Details
Main Authors: Chunna Fan, Zhonghua Wang, Yan Sun, Jun Sun, Xi Liu, Licheng Kang, Yingshuo Xu, Manqiu Yang, Wentao Dai, Lijie Song, Xiaoming Wei, Jiale Xiang, Hui Huang, Meizhen Zhou, Fanwei Zeng, Lin Huang, Zhengfeng Xu, Zhiyu Peng
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Genomics
Subjects:
AutoCNV
CNV interpretation
Scoring
CNV classification
Online Access:https://doi.org/10.1186/s12864-021-08011-4

Internet

https://doi.org/10.1186/s12864-021-08011-4

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