Author

Pooja Kathail

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Open access May 2024

Genetic variants associated with cell-type-specific intra-individual gene expression variability reveal new mechanisms of genome regulation

Gene expression levels can vary substantially across cells, even in a seemingly homogeneous cell population. Identifying the relationships between genetic variation and gene expression is critical for understanding the mechanisms of genome regulation. However, the genetic control of gene expression variability among th...

A. Xue, S. Yazar, José Alquicira-Hernández et al. · bioRxiv · 1 citation

Open access Aug 2026

Base-pair resolution conservation data improves cell type specific sequence-to-expression prediction

Abstract Motivation Genomic sequence-to-activity models can decipher gene regulatory mechanisms and predict the functional impact of regulatory variants. However, current models struggle to integrate information from sequences outside promoters, especially information from cell type specific regulatory elements. Result...

Pooja Kathail, Forest L. Yang, Gabriel B. Loeb et al. · Bioinformatics · 0 citations