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GenoBERT: A Language Model for Accurate Genotype Imputation

arXiv cs.AI · arxiv.org Publicado:

arXiv:2604.00058v2 Announce Type: replace-cross Abstract: Genotype imputation enables dense variant coverage for genome-wide association and risk-prediction studies, yet conventional reference-panel methods remain limited by ancestry bias and reduced rare-variant accuracy. We present Genotype Bidirectional Encoder Representations from Transformers (GenoBERT), a transformer-based, reference-free framework that tokenizes phased genotypes and uses a self-attention mechanism to capture both short-…

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