Alka Chaubey

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

OMKar generates virtual karyotypes from optical genome mapping data to identify constitutional abnormalities with high precision and recall.

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

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.

Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement

This study compares optical genome mapping (OGM) and chromosomal microarray (CMA) for detecting copy number variants and structural variants, finding high concordance and additional structural insights from OGM.

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.

Optical Genome Mapping: Clinical Validation and Diagnostic Utility for Enhanced Cytogenomic Analysis of Hematological Neoplasms

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.

Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception.

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.

Clinical Utility of Combined Optical Genome Mapping and 523-gene Next Generation Sequencing Panel For Comprehensive Evaluation of Myeloid Cancers.

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.

Assessment and clinical utility of a non-Next Generation Sequencing based Non-Invasive Prenatal Testing technology

This study validates rolling circle replication (RCR) technology for non-invasive prenatal testing, showing high sensitivity and specificity for detecting fetal trisomies.

Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses