P766: The utility of runs of homozygosity in the identification of pathogenic variants in individuals with rare diseases

Methods: This presentation reviews key data attributes within dbSNP's Reference SNP (RefSNP) entries, focusing on genomic placement, allele frequency, clinical relevance, and variant functional impact using tools like the Variation Viewer and RefSNP interface.Allele frequency data sourced from the Allele Frequency Aggregator (ALFA) offers a broad spectrum of population-specific frequencies that can highlight potential disease-associated alleles.Clinical annotations from ClinVar and literature references augment these datasets, allowing for comprehensive screening of candidate variants based on disease relevance.Results: dbSNP's integration of data from large-scale genomic projects enables robust variant screening, revealing numerous rare alleles with potential clinical significance.Approximately 1 billion dbSNP variants are annotated with population-level allele frequency data, of which more than 90% are rare (minor allele frequency < 0.01).This unique focus on rare variants, coupled with functional and clinical annotations, allows for the identification of both known pathogenic variants and novel variants, particularly valuable in cancer and complex disease research.Conclusion: As a centralized, comprehensive resource, dbSNP facilitates genome-wide screening of rare and novel variants, offering researchers valuable tools to explore genetic contributions to disease and individual health.The database's extensive allele frequency data, supported by clinical and functional annotations, enables a systematic approach to variant discovery and interpretation, promoting advances in precision medicine and population genetics.