Genetic & Genomic MedicinePLoS GeneticsPeer-reviewed
Multiple instance fine-mapping: predicting causal regulatory variants with a deep sequence model
Alexander Rakowski, Christoph Lippert
The paper introduces MIFM, a deep learning method to predict causal regulatory variants from GWAS data using weak labels and DNA sequences, improving cross-ancestry risk prediction and variant disentanglement.
DOI 10.1371/journal.pgen.1012208