11 citations · 12 across the 5 of their papers we have counts for
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q-bio.QM2024
DNA Language Model and Interpretable Graph Neural Network Identify Genes and Pathways Involved in Rare Diseases
Ali Saadat, Jacques Fellay
Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and…
q-bio.QM2024★ 1 cited
Proteome-wide prediction of mode of inheritance and molecular mechanism underlying genetic diseases using structural interactomics
Ali Saadat, Jacques Fellay
Genetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants th…
q-bio.QM2024★ 11 cited
Fine-tuning the ESM2 protein language model to understand the functional impact of missense variants
Ali Saadat, Jacques Fellay
Elucidating the functional effect of missense variants is of crucial importance, yet challenging. To understand the impact of such variants, we fine-tuned the ESM2 protein language…