Nikhil Sahajpal

This study evaluates Optical Genome Mapping (OGM) for detecting structural variants in myeloid neoplasms, showing high concordance and identifying additional clinically relevant variants compared to standard of care methods.

This paper updates the phase 2 results of a multisite study evaluating optical genome mapping (OGM) as a prenatal diagnostic tool, showing high accuracy and clinical utility.

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 test for detecting structural variations in hematological malignancies, showing high accuracy and sensitivity compared to standard-of-care methods.

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.

The paper evaluates optical genome mapping as a prenatal diagnostic tool, showing 100% concordance with standard methods across multiple sites and operators.

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.

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.

This study evaluates optical genome mapping (OGM) for detecting genomic aberrations in AML, finding it identifies all clinically relevant SVs and CNVs and detects additional variants missed by standard methods.