Jacinta C. Bustamante

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

HMZDelFinder_opt improves detection of homozygous and hemizygous partial exon deletions in WES data by optimizing reference controls and using a sliding window approach.

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

The paper introduces iMUBAC, a framework for integrating multi-batch cytometry data to identify cell types and detect immunophenotype abnormalities across datasets.

The paper introduces a genome-wide case-only test to detect digenic inheritance in human exomes, showing it is more powerful than case-control tests and robust to population stratification.