Matt Velinder

gene.iobio is a web tool that enables clinicians and researchers to interactively analyze and prioritize genomic variants for clinical diagnosis and patient care.

The paper establishes variant filtering guidelines for rare disease studies and estimates candidate variant yields for different inheritance modes using slivar software.

genepanel.iobio generates disease- and phenotype-associated gene lists by integrating multiple gene:disease resources, improving diagnostic variant prioritization in undiagnosed cases.