Lennart F. Johansson

DAVE uses explainable AI to interpret missense variants by integrating biophysically grounded features, improving variant classification and interpretability for genome diagnostics.

Del2Phen is a software tool that generates phenotype descriptions for chromosome deletions by matching patients to genotypically similar individuals and using gene-phenotype relationships.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study uses Cas9-directed long-read sequencing to validate and refine optical genome mapping findings in leukemia diagnostics, improving breakpoint resolution and clinical relevance assessment.

The paper describes a unified data infrastructure for rare disease research, enabling collaborative analysis of multi-omics data across institutions.