P280: Enhancing genomic data accessibility with Hypothes.is parsing tool for variant annotations

Efficiently analyzing genomic variant data is critical for advancing our understanding of various genetic diseases and identifying genotype-phenotype correlations. Hypothes.is, a collaborative web-based annotation tool, allows users to store annotations from publicly sourced data, including peer-reviewed literature of genetic and genomic data. The University of North Carolina Biocuration and Coordination Core (UNC BCC), a part of the Clinical Genome Resource (ClinGen), leverages hypothes.is for community curation to create repositories of structured annotations for gene and variant adjudication, referred to as “Baseline Annotation.” However, raw data obtained from hypothes.is is incompatible with Excel-based analyses, limiting its utility for large-scale studies.