Omri Nayshool

The paper introduces a diploid genomic foundation model to represent diploid genotypes in genomic language models, improving variant discrimination in compound-heterozygous cases.

Wrap a genomic foundation model's inference methods once to score it on supervised and zero-shot GUE, VariantBenchmarks, BEND, TraitGym and ClinVar tasks; code is promised upon acceptance.

Patient-derived neuronal models and mouse models reveal that truncated ASXL3 drive epigenetic dysregulation through a gain-of-function mechanism.

The paper introduces i6A-seq, a method to map N6-isopentenyladenosine in mRNA, revealing its role in mRNA stability via DIS3L2 recruitment.

This paper introduces TriVIAI, an explainable AI tool for predicting missense mutation pathogenicity using three modalities, achieving high performance metrics and offering biological insights and explainability.