Advancing regulatory variant effect prediction with AlphaGenome | Nature
AlphaGenome, a deep learning model that inputs 1-Mb DNA sequence to predict functional genomic tracks at single-base resolution across diverse modalities, outperforms existing models in variant effect prediction and enables comprehensive genomic analysis.
Main Interpreting the impact of genome sequence variation remains a central biological challenge. Non-coding variants, which reside outside of protein-coding regions, are particularly challenging to interpret because of the diverse molecular consequences they can elicit. For example, non-coding variants can modulate genome properties such as chromatin accessibility, epigenetic modifications and three-dimensional chromatin conformation. Variants can further influence messenger RNA (mRNA) availability by altering expression levels or modifying sequence composition through splicing changes.…
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