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. 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, 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.
Search PubMed for articles
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, 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.
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
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H.: TOPORS as a novel causal gene for Joubert syndrome. Am J Med Genet A May 2023.Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG.: Genomic Disorders in CKD across the Lifespan. J Am Soc Nephrol 34: 607-618, Apr 2023.
Glessner JT, Khan ME, Chang X, Liu Y, Otieno FG, Lemma M, Slaby I, Hain H, Mentch F, Li J, Kao C, Sleiman PMA, March ME, Connolly J, Hakonarson H.: Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. J Neurodev Disord 15: 14, Apr 2023.
Qu HQ, Kao C, Garifallou J, Wang F, Snyder J, Slater DJ, Hou C, March M, Connolly JJ, Glessner JT, Hakonarson H.: Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples. Genes (Basel) 14: 142, Jan 2023.
Chang X, March M, Mentch F, Qu H, Liu Y, Glessner J, Sleiman P, Hakonarson H.: Genetic architecture of asthma in African American patients. J Allergy Clin Immunol 2023.
Demontis D, Walters GB, Athanasiadis G, Walters R, Therrien K, Nielsen TT, Farajzadeh L, Voloudakis G, Bendl J, Zeng B, Zhang W, Grove J, Als TD, Duan J, Satterstrom FK, Bybjerg-Grauholm J, Bækved-Hansen M, Gudmundsson OO, Magnusson SH, Baldursson G, Davidsdottir K, Haraldsdottir GS, Agerbo E, Hoffman GE, Dalsgaard S, Martin J, Ribasés M, Boomsma DI, Soler Artigas M, Roth Mota N, Howrigan D, Medland SE, Zayats T, Rajagopal VM; ADHD Working Group of the Psychiatric Genomics Consortium; iPSYCH-Broad Consortium; Nordentoft M, Mors O, Hougaard DM, Mortensen PB, Daly MJ, Faraone SV, Stefansson H, Roussos P, Franke B, Werge T, Neale BM, Stefansson K, Børglum AD.: Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nat Genet 2023.
Demontis D, Walters GB, Athanasiadis G, Walters R, Therrien K, Nielsen TT, Farajzadeh L, Voloudakis G, Bendl J, Zeng B, Zhang W, Grove J, Als TD, Duan J, Satterstrom FK, Bybjerg-Grauholm J, Bækved-Hansen M, Gudmundsson OO, Magnusson SH, Baldursson G, Davidsdottir K, Haraldsdottir GS, Agerbo E, Hoffman GE, Dalsgaard S, Martin J, Ribasés M, Boomsma DI, Soler Artigas M, Roth Mota N, Howrigan D, Medland SE, Zayats T, Rajagopal VM; ADHD Working Group of the Psychiatric Genomics Consortium; iPSYCH-Broad Consortium; Nordentoft M, Mors O, Hougaard DM, Mortensen PB, Daly MJ, Faraone SV, Stefansson H, Roussos P, Franke B, Werge T, Neale BM, Stefansson K, Børglum AD.: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nat Genet 2023.
Linder JE, Allworth A, Bland ST, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, et al.: Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med 2023.
Glessner JT, Li J, Liu Y, Khan M, Chang X, Sleiman PMA, Hakonarson H.: ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies. Eur J Hum Genet 2023.
Qu HQ, Glessner J, Qu J, Mentch F, Campbell I, Sleiman P, Connolly JJ, Hakonarson H.: Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium. Metabolomics 18: 101, Dec 2022.