Evidence-Calibrated Reanalysis of an Otosclerosis Locus Generates a Testable Myeloid State Hypothesis

Background

Otosclerosis is a focal disorder of otic capsule bone remodeling, but variant-to-cell-state mechanisms remain unresolved.

Methods

We performed an entirely secondary hypothesis-generating analysis of otosclerosis GWAS, osteoclast cis-eQTL, epigenomic, pooled Micro-C, and human single-cell RNA-sequencing datasets.

Results