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Science. 2023 Jun 2;380(6648):eabn8153. doi: 10.1126/science.abn8197. Epub 2023 Jun 2.
Science. 2023.
PMID: 37262156
Free PMC article.
We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the remaining 94% of variants with deep learning, achieving state-of-the-art accuracy for diagnosing pathogenic variants in patients with ge …
We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the rem …