Author
Centre for Human GeneticsORCID 0000-0001-8859-2669Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Manaswitha Edupalli, Tivadar Torok, Madhava Jay…·Xi Dawn Chen
BioVault enables privacy-first biomedical collaboration by allowing analysis code to visit data locally, avoiding data transfer and preserving privacy and data sovereignty.
Carin P. de Villiers, Damien J. Downes, Anuj Goel…·Hugh C Watkins
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.
Rui Sousa‐Luís, Gwendal Dujardin, Inna Zukher…·Takayuki Nojima
The paper introduces POINT technology to study co-transcriptional RNA processing, revealing insights into splicing kinetics, Xrn2 exonuclease specificity, and transcript termination mechanisms.