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Usman Sattar Publishes Research Paper | Whole-genome Sequencing as a First-tier Diagnostic Framework for Rare Genetic Diseases

Mr. Usman Sattar, Assistant Professor at BNU School of Business - Department of Management Sciences has co-authored a research paper the details of which are given below.

Paper Title: "Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases"

Mr. Sattar has a background in IT in Business and is currently a scholar of PhD Informatics.

Rare diseases affect nearly 300 million people globally with most patients aged five or less. Traditional diagnostic approaches have provided much of the diagnosis; however, there are limitations. For instance, simply inadequate and untimely diagnosis adversely affects both the patient and their families. This review advocates the use of whole-genome sequencing in clinical settings for the diagnosis of rare genetic diseases by showcasing five case studies. These examples specifically describe the utilization of whole-genome sequencing, which helped in providing relief to patients via correct diagnosis followed by the use of precision medicine.

Paper is available at: https://journals.sagepub.com/doi/abs/10.1177/15353702211040046

"Journal “Experimental Biology and Medicine”. HEC W-Category with impact factor 3.666"

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