11 citations · 12 across the 5 of their papers we have counts for
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q-bio.GN2026
Large Language Models for Variant-Centric Functional Evidence Mining
Ali Saadat, Jacques Fellay
Functional evidence is essential for clinical interpretation of genomic variants, but identifying relevant studies and translating experimental results into structured evidence rem…
q-bio.GN2025
From Mutation to Degradation: Predicting Nonsense-Mediated Decay with NMDEP
Ali Saadat, Jacques Fellay
Nonsense-mediated mRNA decay (NMD) is a critical post-transcriptional surveillance mechanism that degrades transcripts with premature termination codons, safeguarding transcriptome…