Riley J. Mangan

The paper identifies 1,596 Consensus HAQERs by aligning T2T assemblies, showing they are rapidly evolved regions with mutation signatures, regulatory functions, and disease associations.

This study uses sequence-to-function deep learning to identify lineage-specific cis-regulatory elements in human evolution, finding they are shorter, less conserved, and enriched in neurodevelopmental pathways.

EpiATLAS provides a comprehensive collection of human reference epigenomes to advance epigenomic research and understanding of cellular function and disease.

The paper identifies circadian misalignment between cancer and immune cells in breast tumors as a mechanism of immune evasion and therapeutic resistance.

The paper reconstructs metabolic networks across 58 human tissues and cell types using RNA-seq and epigenomic data, identifying core and cell-type-specific metabolic functions and their regulatory elements.

The paper identifies HAQERs in human cortical development, showing their role in gene regulation through CpG gains and links them to neurological disorders.

The paper presents a high-quality marine Threespine Stickleback genome assembly from Rabbit Slough, which includes regions deleted in freshwater populations and provides a better reference for evolutionary studies.

The paper presents haplotype-resolved genomes of six ape species with high accuracy and provides comparative analyses to study evolutionary diversity and gene family evolution.