Leveraging Synthetic Genomics and AI to Predict Pathogenic Variants in Hereditary Hearing Loss

Abstract excerpt

Consanguineous marriages heighten the risk of recessive genetic disorders, including congenital sensorineural hearing loss (CSHL), by increasing the prevalence of homozygous pathogenic variants. However, limited availability of large-scale annotated variant datasets remains a major challenge in developing accurate machine learning (ML) classifiers for variant pathogenicity prediction in such contexts. In this stud...

Topics

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• Benchmarking
• Computer Simulation
• Genomics
• Hearing, Cochlea, Tinnitus, Genetics
• High-Throughput Nucleotide Sequencing
• Phenotype
• Rare Diseases
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

86b24b10-9535-5de1-85a7-7f6b8fd71b1a

DOI

10.20944/preprints202601.0347.v1