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AAVC: An automated framework for high-accuracy ACMG-based variant classification
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DOI：10.1016/j.gim.2026.102624.png)
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Abstract
En 中文
Classification of DNA sequence data requires the implementation of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Therefore, automated tools have been developed. However, these tools often lack robust and up-to-date methodologies. This study reports on the development of a new tool and examines its performance for diagnostic and research purposes.
Keywords:
AAVC
ACMG
ClinGen
Genetic diagnosis
Variant classification
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