Ismail Moghul

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

The paper introduces a pan-cell type chromatin state annotation that integrates all IHEC epigenomes using the epigenome-ssm method, avoiding cell type-specific annotations.

GIMMEcpg is a fast, scalable methylation imputation tool that improves accuracy and efficiency over existing methods, with a machine learning variant offering higher accuracy.

This study identifies two pathogenic mechanisms, RNA toxicity and TCF4 isoform dysregulation, in Fuchs endothelial corneal dystrophy using patient-derived corneal endothelial cells and multi-omics analyses.

This study investigates whether donor DNA methylation can predict acute graft-versus-host disease (aGVHD) in HCT, finding that a classifier developed from methylation data failed to validate in an independent cohort.

The paper benchmarks five DNA methylation platforms and shows imputation improves interoperability between them.

GenomeChronicler generates genomic reports from whole genome or exome sequencing data, linking variants to known phenotypes using public databases.

The paper identifies an sNPF-type neuropeptide ligand in a deuterostome, showing its evolutionary origin in Urbilateria and loss in echinoderms.

Phenogenon identifies gene-phenotype associations in rare genetic diseases by integrating phenotype ontologies, variant frequency data, and pathogenicity scores, uncovering both known and novel relations.

The paper describes the PGP-UK multi-omics reference panel, providing open access to genomic, methylomic, and transcriptomic data with quality control and API access.

PGP-UK explores citizen science in genomics by recruiting participants, sharing data, and developing tools to advance personalized medicine.

The paper identifies novel neuropeptide precursors in brittle stars and analyzes their evolutionary changes over 270 million years.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

GeoDiver provides an online tool for differential gene expression and gene-set analysis on GEO datasets, with interactive visualizations and results sharing capabilities.

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.