From function to translation: Decoding genetic susceptibility to human diseases via artificial intelligence.

ABSTRACT: While genome-wide association studies (GWAS) have discovered thousands of disease-associated loci, molecular mechanisms for a considerable fraction of the loci remain to be explored. The logical next steps for post-GWAS are interpreting these genetic associations to understand disease etiology (GWAS functional studies) and translating this knowledge into clinical benefits for the patients (GWAS translational studies). Although various datasets and approaches using functional genomics have been developed to facilitate these studies, significant challenges remain due to data heterogeneity, multiplicity, and high dimensionality. To address these challenges, artificial intelligence (AI) technology has demonstrated considerable promise in decoding complex functional datasets and providing novel

SUBMITTER: Long E 

PROVIDER: S-EPMC10300605 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature