Davide Piscia

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.

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

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.