Dan Dominissini

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 shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

The paper identifies context-dependent factors affecting CRISPR-Cas9 editing efficiency across species using endogenous editing data and shows that repair outcomes are conserved.

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

The paper improves m6A RNA modification detection using miCLIP2 and m6Aboost, identifying thousands of high-confidence sites in human and mouse cells without requiring Mettl3 depletion.