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In This Section
Dr. Glessner’s current research focuses on childhood neuropsychiatric and neurodevelopmental disorders along with the genetic architecture associated with them, including single nucleotide polymorphisms, single nucleotide variations, and copy number variations ascertained by genomic technologies.
Dr. Glessner’s research interest involves the development of new methods to identify genetic alterations and to characterize their significance in human developmental and neuropsychiatric disease (NPD), including copy number variations (CNV) detection and human disease association.
Using molecular cytogenetics methods, his work to date has focused on the detection of CNV and their impact in human disease, particularly NPD, and he has focused on the creating new software tools to explore such variation. He developed methods to delineate CNV from microarray intensity data, and that effort resulted in PennCNV and ParseCNV. These tools have had a significant impact in both human genetic research and genetic diagnostics, and have become an integral part of routine genetic analysis pipelines.
While most of Dr. Glessner’s research has been widely used in the field of molecular cytogenetics, he incorporated more sophisticated principles and superior resolution into this software development, and he believes that the methods developed for PennCNV were a starting point for the trajectory of these methods. He extended his microarray-based expertise into whole-genome and whole-transcriptome sequencing technologies, and contributed to his broader vision of understanding and ultimately assembling the structure of each genome with integrated transcriptome information as a routine analysis tool in human biology.
Education and Training
BS, University of the Sciences in Philadelphia (Bioinformatics), 2006
MS, University of the Sciences in Philadelphia (Bioinformatics), 2007
Titles and Academic Titles
Technical Director, Genetics Core Facility, Center for Applied Genomics
American Association for the Advancement of Science, 2012-
MGH Executive Council on Research (ECOR) Fund for Medical Discovery Award, 2015