Author

Natasha M. Savage

Augusta UniversityORCID 0000-0003-1474-9568Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alex R. HastieiD· 2 shared Alka ChaubeyiD· 2 shared Ashis Kumar MondaliD· 2 shared Nikhil SahajpaliD· 2 shared Ravindra B KolheiD· 2 shared Vamsi K KotaiD· 2 shared Daniel Saul· 1 shared Debra SaxeiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alex R. HastieORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewedOct 17, 2022

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

Nikhil Sahajpal, Ashis Kumar Mondal, Tatiana Tvrdik…·Ravindra B Kolhe

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.

65 citationstop 1%

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintJan 15, 2022

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

Nikhil Sahajpal, Ashis Kumar Mondal, Sudha Ananth…·Ravindra B Kolhe

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.

2 citations

humanwhole-genome sequencing

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