Dimitris Polychronopoulos

This paper introduces XP-GNN, a method for explaining Graph Neural Networks in biological knowledge graphs by leveraging community structures, showing improved relevance in drug discovery use cases.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

CNEr identifies and analyzes conserved noncoding elements to study their genomic properties and relationships with chromatin structures.