Stefano Lise

The paper profiles EV-RNA and cfDNA from mCRPC patients to identify prognostic biomarkers and tumor microenvironment signals.

The paper identifies a de novo enhancer mutation in KCNB1 causing ST Depression Syndrome, a cardiac arrhythmia, and shows it can be predicted by a deep neural network.

The paper assesses the immunogenic potential of GNAQ and GNA11 mutations in uveal melanoma using genomic and transcriptomic data, finding Q209L mutations are more immunogenic than Q209P.

This study identifies resistance mutations in cancer that may have immunogenic potential, with some validated to elicit T-cell responses.

AmpliSolve improves SNV detection in deep sequencing data by estimating position-specific background noise, achieving good precision and sensitivity even at low VAFs.

This paper develops an error-corrected cfDNA sequencing method for highly sensitive mutation detection and genome-wide copy number reconstruction in metastatic colorectal cancer.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.