Brynn Levy

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 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 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's ability to detect chromosomal variants in MDS patients, showing high concordance with standard methods and identifying additional clinically relevant aberrations.

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.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

This paper validates the analytical and clinical utility of FirstStepDx PLUS, a chromosomal microarray optimized for neurodevelopmental conditions, showing its effectiveness in detecting copy number variants using buccal and blood samples.