Area of research
Molecular Biology · Genetics
Research interest
Research interests include RNA Research and Splicing, RNA and protein synthesis mechanisms, RNA modifications and cancer, and Genomics and Chromatin Dynamics.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
From computational models of the splicing code to regulatory mechanisms and therapeutic implications
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Integration of variant annotations using deep set networks boosts rare variant association testing
Systematic assessment of COVID-19 host genetics using whole genome sequencing data
Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease
Integration of variant annotations using deep set networks boosts rare variant association genetics
Transmicron: accurate prediction of insertion probabilities improves detection of cancer driver genes from transposon mutagenesis screens
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes
Swarm Learning for decentralized and confidential clinical machine learning
Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19
Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
The Kipoi repository accelerates community exchange and reuse of predictive models for genomics
Assessing predictions of the impact of variants on splicing in CAGI5
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
The Genomic and Transcriptomic Landscape of a HeLa Cell Line
Genotyping 1000 yeast strains by next-generation sequencing