ACMG Annual Clinical Genetics Meeting 2024 Scientific Platform Presentation

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Scientific Platform Presentation

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Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature Review and Parallelized Evidence Curation

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Sequencing of large gene panels, exomes and genomes in clinical diagnostics, has led to an exponential increase in the number of variants of uncertain significance. Additionally, with the commoditization of genome sequencing, newly characterized Gene-Disease Relationships (GDRs) are being published at an exponential pace. Despite the great progress made by multiple expert ClinGen working groups in identifying GDRs from >1900 genes, more work remains to fully characterize newly emerging GDRs from the scientific and medical literature and to stay current with the latest published evidence to keep designations up-to-date. For this study, we embarked on massively parallelized curation of all GDRs across all genes associated with the clinical exome using a gene-first approach facilitated by computational indexing of published evidence to ensure maximal sensitivity.

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