Joseph Glessner, PhD
Research Assistant Professor of Pediatrics (Human Genetics)
Associate Director, Center for Applied Genomics, Children’s Hospital of Philadelphia
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Research Institute
3615 Civic Center Boulevard
Office 1216E/ARC
Philadelphia, PA 19104
Research Institute
3615 Civic Center Boulevard
Office 1216E/ARC
Philadelphia, PA 19104
Office: 856-341-6065
Fax: 267-426-0363
Fax: 267-426-0363
Email:
glessner@chop.edu
glessner@chop.edu
Publications
Links
Search PubMed for articles
Glessner JT et al. MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. BMC Genomics. 2021 Feb 24;22(1):133. doi: 10.1186/s12864-021-07395-7. PMID: 33627065; PMCID: PMC7905641.
Glessner JT et al. ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies. Eur J Hum Genet. 2023 Mar;31(3):304-312. doi: 10.1038/s41431-022-01222-7. Epub 2022 Nov 1. PMID: 36316489; PMCID: PMC9995309.
Glessner JT et al. DeepCNV: a deep learning approach for authenticating copy number variations. Brief Bioinform. 2021 Sep 2;22(5):bbaa381. doi: 10.1093/bib/bbaa381. PMID: 33429424; PMCID: PMC8681111.
Glessner JT, Li J, Hakonarson H. ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Res. 2013 Mar 1;41(5):e64. doi: 10.1093/nar/gks1346. Epub 2013 Jan 4. PMID: 23293001; PMCID: PMC3597648.
Search PubMed for articles
Glessner JT et al. MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. BMC Genomics. 2021 Feb 24;22(1):133. doi: 10.1186/s12864-021-07395-7. PMID: 33627065; PMCID: PMC7905641.
Glessner JT et al. ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies. Eur J Hum Genet. 2023 Mar;31(3):304-312. doi: 10.1038/s41431-022-01222-7. Epub 2022 Nov 1. PMID: 36316489; PMCID: PMC9995309.
Glessner JT et al. DeepCNV: a deep learning approach for authenticating copy number variations. Brief Bioinform. 2021 Sep 2;22(5):bbaa381. doi: 10.1093/bib/bbaa381. PMID: 33429424; PMCID: PMC8681111.
Glessner JT, Li J, Hakonarson H. ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Res. 2013 Mar 1;41(5):e64. doi: 10.1093/nar/gks1346. Epub 2013 Jan 4. PMID: 23293001; PMCID: PMC3597648.
Education:
B.S. (Bioinformatics)
University of the Sciences in Philadelphia, 2006.
M.S. (Bioinformatics)
University of the Sciences in Philadelphia, 2007.
Ph.D. (Genomics and Computational Biology)
University of Pennsylvania, 2014.
Permanent linkB.S. (Bioinformatics)
University of the Sciences in Philadelphia, 2006.
M.S. (Bioinformatics)
University of the Sciences in Philadelphia, 2007.
Ph.D. (Genomics and Computational Biology)
University of Pennsylvania, 2014.
Description of Clinical Expertise
Electronic Medical Record Querying for PhenotypesDescription of Research Expertise
Copy Number Variation Detection and Association, Genome-wide association studies, Microarray, Whole Exome Sequencing, Whole Genome Sequencing, RNA-seq (total, poly-A, single cell).Selected Publications
Qu HQ, Connolly JJ, Mentch F, Glessner J, Hakonarson H: Metabolic remodeling and the modulatory role of vitamin D deficiency in African American children and adolescents with obesity. Int J Obes (Lond) Jan 2026 Notes: doi: 10.1038/s41366-025-02003-0. Online ahead of print.Teles F, Chandrasekaran G, Martin L, Shrestha P, Moss K, Patel M, Kallan MJ, Furquim C, Cucchiara AJ, Beck JD, North KE, Glessner J, Divaris K: Genome-wide association study of periodontitis severity and progression. J Periodontol Dec 2025 Notes: doi: 10.1002/jper.70017. Online ahead of print.
Liu Y, Qu HQ, Chang X, Mentch FD, Qiu H, Nguyen K, Eister G, Ostberg K, Glessner J, Hakonarson H: Unsupervised machine learning integrates genomic variants and EMR to unravel mechanisms of brain hemorrhage and epilepsy as early indicators of Alzheimer's in down syndrome. Alzheimers Res Ther 18(1): 20, Dec 2025 Notes: doi: 10.1186/s13195-025-01946-w.
Qu HQ, Connolly JJ, Eister G, Mentch F, Glessner J, Hakonarson H: Pro‑inflammatory insulin‑resistant lipid phenotype in down syndrome identified by (1)H‑NMR metabolomics in obesity-matched African‑American children and young adults. J Periodontol 15(1): 42039, Nov 2025 Notes: doi: 10.1038/s41598-025-26217-4.
Liao SY, Fingerlin TE, Jacobson S, Mroz MM, Rosenman KD, Rossman MD, Virji M, McCanlies EC, Schuler CR, Yucesoy B, Glessner J, Duke JL, Hakonarson H, Monos DS, Maier LA: Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population. Gene 971: 149820, Nov 2025 Notes: doi: 10.1016/j.gene.2025.149820. Epub 2025 Oct 10.
Furquim CP, Caruth L, Chandrasekaran G, Cucchiara A, Kallan MJ, Martin L, Feres M, Bittinger K, Divaris K, Glessner J, Kantarci A, Giannobile W, Verma SS, Teles F: Developing Predictive Models for Periodontitis Progression Using Artificial Intelligence: A Longitudinal Cohort Study. J Clin Periodontol 52(10): 1478-1490, Oct 2025 Notes: doi: 10.1111/jcpe.14194. Epub 2025 Aug 19.
Qu HQ, Goel K, Ostberg K, Slater DJ, Wang F, Snyder J, Hou C, Eister G, Connolly JJ, March M, Glessner JT, Kao C, Hakonarson H: Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing. Exp Biol Med (Maywood) 250: 10524, Aug 2025 Notes: doi: 10.3389/ebm.2025.10524. eCollection 2025.
Qu HQ, Ostberg K, Slater DJ, Wang F, Snyder J, Hou C, Connolly JJ, March M, Glessner JT, Kao C, Hakonarson H: Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome. J Gene Med 27(8): e70030, Aug 2025 Notes: doi: 10.1002/jgm.70030.
Sha Z, Sun KY, Jung B, Barzilay R, Moore TM, Almasy L, Forsyth JK, Prem S, Gandal MJ, Seidlitz J, Glessner JT, Alexander-Bloch AF.: Copy Number Variant Architecture of Child Psychopathology and Cognitive Development in the ABCD Study. Am J Psychiatry 182: 763-778, Aug 2025.
Shanta O, Klein M, Sacks M, MacDonald JR, Maihofer A, Ahangari M, Engchuan W, Thiruvahindrapuram B, Guevara J, Hong O, Huguet G, Sønderby I, Kalyuzhny M, Adams MJ, Adolfsson R, Agartz I, Aiello AE, Alda M, Allardyce J, Amstadter AB, Andlauer TFM, Andreassen OA, Artigas MS, Austin SB, Ayub M, Baker DG, Bass N, Baune BT, Bayas M, Berger K, Biernacka JM, Bigdeli T, Bisson JI, Blackwood D, Boks M, Braff D, Bramon E, Breen G, Brueckl T, Bryant RA, Bulik CM, Buxbaum J, Cairns MJ, Caldas-de-Almeida JM, Campbell M, Campion D, Carr VJ, Castelao E, Chaumette B, Cichon S, Cohen D, Corvin A, Craddock N, Crosbie J, Czamara D, Dannlowski U, Degenhardt F, Delahanty DL, Dempfle A, Desachy G, Di Florio A, Dickerson FB, Djurovic S, Domschke K, Douglas L, Drange OK, Duncan LE, Edenberg HJ, Esko T, Faraone S, Feeny NC, Forstner AJ, Franke B, Frye M, Fu DJ, Fullerton JM, Gareeva A, Garvert L, Gatt JM, Gejman P, Geschwind DH, Giegling I, Glatt SJ, Glessner J, Goes FS, Gordon-Smith K, Grabe H, Green MJ, Green MF, Greenwood T, Grigoroiu-Serbanescu M, Gur RE, Gur RC, Guzman-Parra J, Haavik J, Hahn T, Hakonarson H, Hallmayer J, Hamshere ML, Hartmann AM, et al: A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits. medRxiv [Preprint] Jul 2025 Notes: doi: 10.1101/2025.07.11.25331310.