M. Anwar Iqbal

Ablation and Seed-driven Restoration of an Alpha-Satellite Devoid Human Centromere Reveals Size Homeostasis Mechanisms

This study uses a genetically tractable neocentromere system to show that centromere formation involves a seed-driven expansion process and size homeostasis mechanisms.

Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms.

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.

Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

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.

Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies

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.

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.

Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing

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

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.