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. 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. 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. 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.
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. 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. 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. 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.
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
Chang X, Qu H, Liu Y, Glessner J, Hakonarson H.: A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder-Associated Copy Number Variations. Biol Psychiatry 95(9): 881-887, May 2024 Notes: doi: 10.1016/j.biopsych.2023.10.011.Qu HQ, Glessner JT, Qu J, Liu Y, Watson D, Chang X, Saeidian AH, Qiu H, Mentch FD, Connolly JJ, Hakonarson H.: High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Transl Res 266: 49-56, Apr 2024 Notes: DOI # 10.1016/j.trsl.2023.11.004.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE.: Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat Med 30(2): 480-487, Feb 2024 Notes: doi: 10.1038/s41591-024-02796-z.
Fan J, Li X, Yang J, Zhang S, Qu H, Ji D, Glessner JT, Hao J, Ding Z, Wang N, Meng X, Xia Q, Hakonarson H, Wei W, Li J.: Revealing Novel Genomic Insights and Therapeutic Targets for Juvenile Idiopathic Arthritis through Omics. Rheumatology (Oxford) 63(SI2): SI249-SI259, Feb 2024 Notes: doi: 10.1093/rheumatology/keae078.
Bradfield JP, Kember RL, Ulrich A, Balkhiyarova Z, Alyass A, Aris IM, Bell JA, Broadaway KA, Chen Z, Chai JF, Davies NM, Fernandez-Orth D, Bustamante M, Fore R, Ganguli A, Heiskala A, Hottenga JJ, Íñiguez C, Kobes S, Leinonen J, Lowry E, Lyytikainen LP, Mahajan A, Pitkänen N, Schnurr TM, Have CT, Strachan DP, Thiering E, Vogelezang S, Wade KH, Wang CA, Wong A, Holm LA, Chesi A, Choong C, Cruz M, Elliott P, Franks S, Frithioff-Bøjsøe C, Gauderman WJ, Glessner JT, Gilsanz V, Griesman K, Hanson RL, Kaakinen M, Kalkwarf H, Kelly A, Kindler J, Kähönen M, Lanca C, Lappe J, Lee NR, McCormack S, Mentch FD, Mitchell JA, Mononen N, Niinikoski H, Oken E, Pahkala K, Sim X, Teo YY, Baier LJ, van Beijsterveldt T, Adair LS, Boomsma DI, de Geus E, Guxens M, Eriksson JG, Felix JF, Gilliland FD, Biobank PM, Hansen T, Hardy R, Hivert MF, Holm JC, Jaddoe VWV, Järvelin MR, Lehtimäki T, Mackey DA, Meyre D, Mohlke KL, Mykkänen J, Oberfield S, Pennell CE, Perry JRB, Raitakari O, Rivadeneira F, Saw SM, Sebert S, Shepherd JA, Standl M, Sørensen TIA, Timpson NJ, Torrent M, Willemsen G, Hypponen E, Power C; Early Growth Genetics Consortium, McCarthy MI, Freathy RM, Widén E, Hakonarson H, Prokopenko I, Voight BF, Zemel BS, Grant SFA, Cousminer DL: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes. Genome Biol 25(1): 22, Jan 2024 Notes: doi: 10.1186/s13059-023-03136-z.
Huang X, Huang J, Li X, Fan J, Zhou D, Qu HQ, Glessner JT, Ji D, Jia Q, Ding Z, Wang N, Wei W, Lyu X, Li MJ, Liu Z, Liu W, Wei Y, Hakonarson H, Xia Q, Li J.: Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency. J Allergy Clin Immunol 153(6): 1668-1680, Jan 2024 Notes: doi: 10.1016/j.jaci.2023.12.023.
Benfica LF, Brito LF, do Bem RD, Mulim HA, Glessner J, Braga LG, Gloria LS, Cyrillo JNSG, Bonilha SFM, Mercadante MEZ.: Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle. BMC Genomics 25: 54, Jan 2024.
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 55(4): 730, Dec 2023 Notes: Investigator.
Abudahab S, Hakooz N, Al-Etian L, Shishani K, Bashqawi A, Connolly J, Glessner JT, Qu HQ, Qu J, Hakonarson H, Dajani R.: The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies. J Community Genet 14(6): 505-517, Dec 2023 Notes: doi: 10.1007/s12687-023-00668-6.
Chang X, Qu HQ, Liu Y, Glessner JT, Hakonarson H.: Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry. J Am Acad Child Adolesc Psychiatry 63(8): 835-844, Dec 2023 Notes: doi: 10.1016/j.jaac.2023.09.550.