Author
University of CambridgeORCID 0009-0002-2466-9932Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Klara M. Anker, Rosario Evans Pena, Steven A. Kemp…·Katrina Lythgoe
The paper identifies and masks artefactual variants in SARS-CoV-2 sequencing data to improve the accuracy of within-host diversity and transmission analysis.
Gioia Quarantani, Joseph Clarke, Michael James Thompson…·Ben Lehner
OpenSplice quantifies the impact of over 590,000 variants on the splicing of 600 human exons, providing insights into splicing regulatory mechanisms and enabling machine learning model evaluation.
Pablo Baeza-Centurión, Belén Miñana, André J. Faure…·Juan Valcárcel
The paper uses deep learning to predict splicing regulatory effects and identify effective antisense oligonucleotides by analyzing systematic deletion scans of human exons.