Peng Zhang

The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.

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.

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

The paper introduces BPHunter, a computational tool to detect intronic variants disrupting branchpoints, identifies known and novel mutations, and validates them experimentally.

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

SeqTailor extracts DNA or protein sequences from VCF files for genetic variant analysis, providing a user-friendly webserver to support sequence-based predictions.