Presentation Time: 11:55-12:15
Home University: UNC-Chapel Hill
Research Mentor: Jonathan Berg, Genetics
Program: SMART
Research Title: Variants that cause Hemophilia A and B: An exploration through Hypothes.is
To determine which genetic mutations, or variants, are most relevant to patient care in the use of precision medicine, evidence for variant pathogenicity evaluation must be analyzed from existing scientific literature in a process known as variant curation. Hypothes.is is a web annotation tool that allows users to annotate scientific literature, contributing to variant curation. The objective of my project is to create annotations, through Hypothes.is, for the F8/F9 coagulation factor genes that will aid variant curation and correlate the type of variant with the severity of Hemophilia A or B, inhibitor status, and assay discrepancy. The procedure involves annotating relevant information, utilizing tags, about patient(s) in the literature; their sex, age, ethnicity, gene variant, disease assertion, phenotype severity, presence of inhibitory antibodies, and assay discrepancy, if reported. In all of the annotations across multiple papers, there were mild, moderate, and severe cases harboring unique variants. Additionally, cases were categorized based on inhibitor status and assay discrepancies. Since the pool of scientific literature is so vast, this project has considerable room for expansion as there are several more variants and correlations to discover. After annotating several case reports and series, I have learned how vital annotation is to variant curation and our understanding of the role of pathogenic variants in disease.