HapScoreDB: a database of protein language model functional scores for haplotype-resolved protein sequences

Deciphering the functional effects of genetic variants, especially those inherited together on the same haplotype, remains a major challenge in human genetics, where epistasis among co-occurring variants can further complicate interpretation. To address this, we present HapScoreDB, a database offering protein language model-derived scores for haplotype-resolved protein-coding sequences across all human transcript isoforms. Leveraging GENCODE and Ensembl annotations with phased variant data from...