Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.

Santiago DemajoJoan Enric Ramis-ZaldivarFerran Muinos Miguel L GrauMaria AndrianovaNúria López-Bigas Nuria Lopez-Bigas

Published in: medRxiv : the preprint server for health sciences (2023)

We developed and validated 12 gene-specific machine learning models to identify CH driver mutations, showing their advantage with respect to expert-curated rules. These models can support the identification and clinical interpretation of CH mutations in newly sequenced individuals.

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