MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach

MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach

Abstract Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts the pathogenicity of multi-type variants. MAGPIE uses the ClinVar dataset for trai...

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Bibliographic Details
Main Authors: Yicheng Liu, Tianyun Zhang, Ningyuan You, Sai Wu, Ning Shen
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Genome Medicine
Subjects:
Pathogenic prediction
Multimodal annotation
Machine learning
Genomic variation
Online Access:https://doi.org/10.1186/s13073-023-01274-4

Internet

https://doi.org/10.1186/s13073-023-01274-4

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