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Curating the Clinical Genome 2024 ePoster Gallery
Comprehensive Identification of Gene-Disease Relat ...
Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature
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Pdf Summary
Genomenon is dedicated to leveraging AI and genomic expertise to simplify complex genetic data for patient diagnosis and precision medicine. Through massively parallelized curation, they identified over 8,500 gene-disease relationships (GDRs) in the clinical exome, with most discrepancies stemming from newly published evidence. The study demonstrated a successful gene-first curation approach using natural-language processing and manual curation, aligning with ClinGen's results while showcasing the potential of focused curation efforts. The findings are also valuable for drug discovery efforts by identifying new targets and guiding drug repositioning. The systematic approach involved surveying industry sources, reviewing clinical cases and functional studies, and applying ClinGen guidelines for final GDR designations. The study resulted in a reproducible process for accurate prioritization of variants of uncertain significance (VUS) in diagnostics and genes in drug discovery. Overall, the work represents a significant step towards enhancing our understanding of gene-disease relationships and their clinical implications, with potential implications for improving patient care and treatment outcomes.
Keywords
Genomenon
AI
genomic expertise
patient diagnosis
precision medicine
gene-disease relationships
natural-language processing
manual curation
drug discovery
variants of uncertain significance
Elizabeth Wiley (ewiley@genomenon.com)
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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