Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Polygenic risk scores for autoimmune related diseases are significantly different in cancer exceptional responders.
Ongoing challenges and innovative approaches for recognizing patterns across large-scale, integrative biomedical datasets.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.
