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Towards complete and error-free genome assemblies of all vertebrate species

Nature Communications 2021
Rhie A. et al

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

npj genomic medicine 2021
Shieh J. et al

Live Webinar – Ravindra Kolhe, MD, PhD

 - April 28
Virtual - Online - 7:00A PDT / 10:00A EDT

Host genome analysis of structural variations by Optical Genome Mapping in patients with severe COVID-19

Ravindra Kolhe, MD, PhD
Department of Pathology, Section of Anatomic Pathology
Vice Chairman for Translation Research
Chief, Section of Molecular and Genetic Pathology
Augusta University

The varied clinical manifestations and outcomes in patients with SARS-CoV-2 infections implicate a role of host-genetics in the predisposition to disease severity. This role is supported by evidence that is now emerging, where initial reports identify common risk factors and rare genetic variants associated with high risk for severe/life-threatening COVID-19. We investigated the host genomes of individuals with severe/life-threatening COVID-19 at the structural variant level (500 bp – Mbps) to identify events that might provide insight into the inter-individual variability in clinical course and outcomes associated with SARS-CoV-2 infections and COVID-19 mortality.


Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping

Augusta University
Dr. Alex Hastie / Dr. Nikhil Sahajpal


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