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, 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.
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 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.
Search PubMed for articles
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.
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 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.
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
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.Qu H, Qu J, Chang X, Williams N, Mentch F, Snyder J, Lemma M, Nguyen K, Behr M, March M, Connolly J, Glessner J, Boris JR, Hakonarson H.: The genetic landscape of pediatric postural orthostatic tachycardia syndrome. Clin Auton Res Jun 2025.
Zhi L, Zheng Q, Jiang Y, Yu L, Li L, Song Y, Peng B, Zhang C, Jiang H, Li R, Mentch F, Glessner J, Jia P, Tang H, Hakonarson H, Chang X.: Multi-trait genetic analysis of asthma and eosinophils uncovers pleiotropic loci in East Asians. Nat Commun 16: 5081, May 2025.
Liu Y, Qu HQ, Chang X, Mentch FD, Qiu H, Torkamandi S, Nguyen K, Ostberg K, Wang T, Glessner J, Hakonarson H.: Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome. Mol Psychiatry May 2025.
Weaver JK, Weiss DA, Thompson A, Joshi R, Ramji J, Shukla AR, D'Souza N, Kim E, Lee J, Wu CW, Broms R, Glessner J, Mentch F, Hakonarson H, Pyle LC.: Genetic analysis of two bladder exstrophy populations of South Asian and North American origin. J Pediatr Urol Apr 2025.
Oliva M, Sarkar MK, March ME, Saeidian AH, Mentch FD, Hsieh CL, Tang F, Uppala R, Patrick MT, Li Q, Bogle R, Kahlenberg JM, Watson D, Glessner JT, Youssefian L, Vahidnezhad H, Tsoi LC, Hakonarson H, Gudjonsson JE, Smith KM, Riley-Gillis B.: Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis. Nat Commun 16: 3101, Apr 2025.
Connolly JJ, Hess M, Maripuri P, Terek S, Purcell J, Harr MH, Mentch FD, Glessner JT, Shah R, Prows CA, Karavite DJ, Thayer JG, Grundmeier RW, Hakonarson H; eMERGE Network.: Correspondence on "Weighty matters: Considering the ethics of genetic risk scores for obesity" by C. Houtz. Genet Med Mar 2025.
Liu Y, Glessner J, Qu HQ, Chang X, Qiu H, Wang T, Mentch FD, Hakonarson H.: Copy number variations contribute to malignant tumor development in children with serious birth defects. Mol Oncol Mar 2025.
Qu HQ, Glessner JT, Kao C, Hakonarson H.: Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics. Genes Dis 12: 101525, Jan 2025.
Fan J, Hao J, Fu Y, Liu X, Qu HQ, Glessner JT, Ji D, Liu W, Zheng G, Ding Z, Cui S, Xia Q, Hakonarson H, Wei W, Li J.: Genetic Association of Juvenile Idiopathic Arthritis With Adult Rheumatic Disease. JAMA Netw Open 7: e2451341, Dec 2024.