MutBERT: probabilistic genome representation improves genomics foundation models.

Abstract excerpt

MOTIVATION: Understanding the genomic foundation of human diversity and disease requires models that effectively capture sequence variation, such as single nucleotide polymorphisms (SNPs). While recent genomic foundation models have scaled to larger datasets and multi-species inputs, they often fail to account for the sparsity and redundancy inherent in human population data, such as those in the 1000 Genomes...

Topics

• Humans
• Polymorphism, Single Nucleotide
• Genomics
• Genome, Human
• Software
• Models, Statistical
• Models, Genetic