Joel S. Rozowsky

Predicting Disease-Specific Histone Modifications and Functional Effects of Non-coding Variants by Leveraging DNA Language Models

The paper develops a disease-specific histone modification prediction model using a large language model and MoE architecture, achieving high AUROC scores and identifying AD-associated variants.

An expanded reference catalog of translated open reading frames for biomedical research

The paper expands and refines a reference catalog of human non-canonical open reading frames (ncORFs) by incorporating more datasets and introducing a translation signature score framework to prioritize high-quality ncORFs.

The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models

The paper introduces the EN-TEx resource, which provides personal epigenomes and variant-impact models across multiple tissues, revealing allele-specific loci and their associations with GWAS loci.

An integrative ENCODE resource for cancer genomics

The paper develops a custom ENCODE annotation for cancer genomics, highlighting TF-RBP interactions and network rewiring during oncogenesis, and validates findings using experimental assays.

A cross-organism framework for supervised enhancer prediction with epigenetic pattern recognition and targeted validation

This paper develops a cross-organism framework for enhancer prediction using Drosophila STARR-seq data and supervised machine learning, validated in mouse and human with 153 enhancers.