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.
Polygenic risk scores for autoimmune related diseases are significantly different in cancer exceptional responders.
Tracking SARS-CoV-2 variants of concern in wastewater: an assessment of nine computational tools using simulated genomic data.
Metagenomic study on the composition of culturable and non-culturable bacteria in tap water and biofilms at intensive care units.
