Ashis Kumar Mondal

This study validates optical genome mapping (OGM) as a high-resolution, cost-effective alternative to traditional prenatal diagnostic methods by demonstrating its ability to detect all classes of structural variants and copy number variations with 100% concordance.

This study validates optical genome mapping (OGM) as a clinical tool for detecting structural variations in hematological neoplasms, showing high sensitivity and specificity compared to standard methods.

The paper describes an integrated workflow combining optical genome mapping and SNP microarray analysis to improve diagnostic yield in products of conception cases with maternal cell contamination.

This study evaluates the clinical utility of optical genome mapping and a 523-gene NGS panel for comprehensive genomic profiling of myeloid cancers, showing higher sensitivity and resolution compared to standard-of-care methods.