Nikolas Pontikos

This study combines monogenic and polygenic risk factors to predict disease progression in Fuchs endothelial corneal dystrophy, showing improved prediction when integrating both factors.

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

The paper investigates how inhibitory KIRs modify HLA class II protective associations in Type 1 Diabetes, finding that iKIRs reduce HLA class II-mediated protection.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

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.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

SVRare improves the discovery of disease-causing structural variants by aggregating and annotating rare variants from whole genome sequencing data in the 100K Genomes Project.

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.

This study evaluates automated deep learning tools for medical image classification by non-experts, showing high performance in some tasks but limitations in external validation and dataset quality.

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

The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.

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

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