Péter L. Nagy

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts

This study demonstrates that optical genome mapping (OGM) achieves high concordance with standard-of-care testing and identifies additional reportable variants in neurodevelopmental disorder cohorts.

Whole genome analysis sheds light on the genetic origin of Huns, Avars and conquering Hungarians

This study analyzes whole-genome data from ancient populations to trace the genetic origins of Huns, Avars, and conquering Hungarians, identifying their immigrant cores and genetic links.

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis

This study evaluates the performance and reproducibility of optical genome mapping (OGM) across multiple sites for detecting structural variations and copy number variations in constitutional disorders, showing high concordance with standard of care methods.

Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs

The paper maps allele-specific DNA methylation in normal and cancer tissues, identifying disease-associated regulatory SNPs that are missed by other methods.