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Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Neonatal Brain Network Integration Trajectories Predict Neurodevelopment in Congenital Heart Disease.
Multi-Ancestry Epigenome-Wide Meta-Analysis Identifies Novel Bulk and Cell-Type-Specific Epigenetic Markers of Asthma with Severe Exacerbations.
High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.
Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles.
Sustained High Prevalence of Multiple Antimalarial Drug Resistance Markers in Uganda in 2023-24.
A Multi-Omics Study Reveals Pathway-Level Insights and Predictive Biomarkers in pediatric TB.
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Comparing computable structured phenotype- versus large language model-identification of opioid use disorder using electronic health record data.
Evaluating metagenomic sequencing as a stool-based diagnostic in children with presumptive TB in Uganda.