Informatics Educational Institutions & Programs

Charles Lee is Director and Professor of The Jackson Laboratory for Genomic Medicine, The Robert Alvine Family Endowed Chair and a board certified clinical cytogeneticist who has an active research program in the identification and characterization of structural genomic variants using advanced technology platforms. His laboratory was the first to describe genome-wide structural genomic variants (in the form of copy number variants (CNVs)) among humans[1] with the subsequent development of genomic maps[2][3] that are used in the diagnoses of array-based genetic tests. Lee served as the President of the Human Genome Organisation (HUGO) 2017 to 2023.

Charles Lee
Born (1969-04-01) April 1, 1969 (age 55)
NationalityCanada, Korea
Alma materUniversity of Alberta
Scientific career
FieldsHuman genomics, cytogenetics, pathology
InstitutionsThe Jackson Laboratory for Genomic Medicine
Doctoral advisorC.C. Lin

Education

Work

Positions held

Major research publications

  • 1993: Lee C, Sasi R, Lin CC. Interstitial localization of telomeric DNA sequences in the Indian muntjac chromosomes: further evidence for tandem chromosome fusions in the karyotypic evolution of the Asian muntjacs. Cytogenet. Cell Genet.. 1993; 63: 156–9[5]
  • 1997 : Lee C, Wevrick R, Fisher RB, Ferguson-Smith MA, Lin CC. Human centromeric DNAs. Hum Genet. 1997; 100: 291-304[6]
  • 2004: Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet. 2004; 36: 949–51[1]
  • 2006: Redon R, Ishikawa S, Fitch KR, Feuk L, Perry G, Andrews TD, Fiegler H, ... , Tyler-Smith C*, Carter NP*, Aburatani H*, Lee C*, Jones KW*, Scherer SW*, Hurles ME*. Global variation in copy number in the human genome. Nature. 2006; 444: 444–54[2] *Co-senior authors
  • 2007: Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, Werner J, Villanea FA, Mountain JL, Misra R, Carter NP, Lee C*, Stone AC*. Diet and the evolution of human gene copy number variation. Nat Genet. 2007; 39: 1256–60[7] *Co-senior authors
  • 2007: Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007; 39: S48-S54[8]
  • 2008: Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. The fine-scale and complex architecture of human copy number variation. Am J Hum Genet. 2008; 82: 685–95[9]
  • 2010: Conrad D, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, ... , Tyler-Smith C*, Carter NP*, Lee C*, Scherer SW*, Hurles ME*. Common copy number variation in the human genome: mechanism, selection and disease association. Nature. 2010; 464: 704–12[3] *Co-senior authors
  • 2011: Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, ... , Eichler EE*, Gerstein MB*, Hurles ME*, Lee C*, McCarroll SA*, Korbel, JO*. Mapping copy number variation by population-scale genome sequencing. Nature. 2011; 470: 59–65[10] *Co-senior authors
  • 2012: Brown, KH, Dobrinski KP, Lee AS, Gokcumen O, Mills RE, Shi X, Chong WW, Chen JY, Yoo P, David S, Peterson SM, Raj T, Choy KW, Stranger B, Williamson RE, Zon LI, Freeman JL, Lee C. Extensive genetic diversity and sub-structuring among zebrafish strains revealed through copy number variant analysis. Proc Natl Acad Sci USA 2012; 109: 529–534[11]
  • 2013: Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stutz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Lee C*, Korbel JO*. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci USA 2013; 110: 15764-9[12] *Co-senior author
  • 2015: Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abzov A, ... , Mills RE*, Gerstein M*, Bashir A*, Stegle O*, Devine SE*, Lee C*, Eichler EE*, Korbel JO*. An integrated map of structural variation in 2,504 human genomes. Nature 2015; 526: 75–81[13]
  • 2017: Zhu Q, High FA, Zhang C, Cereira E, Russell M, Longoni M, Ryan M, Mil-homens A, Bellfy L, Coletti C, Bhayani P, Jila R, Donahoe PK, Lee C. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci USA 2018; 115: 5247–5252[14]
  • 2019: Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019; 10: 1784.
  • 2023: Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Hops W, Kim K, Li C, Hoyt SJ, Dischuck PC, Porubsky D, Tsetsos F, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K, Human Genome Structural Variant Consortium (HGSVC), O’Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C. Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation. Nature 2023 Sep; 621(7978): 355-64.

Awards / Appointments

References

  1. ^ a b Iafrate, AJ; Feuk, L; Rivera, MN; et al. (2004). "Detection of large-scale variation in the human genome". Nat. Genet. 36 (9): 949–951. doi:10.1038/ng1416. PMID 15286789.
  2. ^ a b Redon, R; Ishikawa, S; Fitch, KR; et al. (2006). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
  3. ^ a b Conrad, Donald F.; Pinto, Dalila; Redon, Richard; Feuk, Lars; Gokcumen, Omer; Zhang, Yujun; Aerts, Jan; Andrews, T. Daniel; Barnes, Chris; Campbell, Peter; Fitzgerald, Tomas; Hu, Min; Ihm, Chun Hwa; Kristiansson, Kati; MacArthur, Daniel G.; MacDonald, Jeffrey R.; Onyiah, Ifejinelo; Pang, Andy Wing Chun; Robson, Sam; Stirrups, Kathy; Valsesia, Armand; Walter, Klaudia; Wei, John; Tyler-Smith, Chris; Carter, Nigel P.; Lee, Charles; Scherer, Stephen W.; Hurles, Matthew E. (2010). "Common copy number variation in the human genome: mechanism, selection and disease association". Nature. 464 (7289): 704–712. Bibcode:2010Natur.464..704.. doi:10.1038/nature08516. PMC 3330748. PMID 19812545.
  4. ^ "University of Alberta: Distinguished Alumni Award: Charles Lee, '90 BSc(Spec), '93 MSc, '96 PhD, medical geneticist". Archived from the original on 2019-11-27. Retrieved 2019-06-16.
  5. ^ Lee, C.; Sasi, R.; Lin, C.C. (1993). "Interstitial localization of telomeric DNA sequences in the Indian muntjac chromosomes: further evidence for tandem chromosome fusions in the karyotypic evolution of the Asian muntjacs". Cytogenet. Cell Genet. 63 (3): 156–159. doi:10.1159/000133525. PMID 8485991.
  6. ^ Lee, C.; Wevrick, R.; Fisher, R. B.; Ferguson-Smith, M. A.; Lin, C. C. (1997). "Human centromeric DNAs". Human Genetics. 100 (3–4): 291–304. doi:10.1007/s004390050508. PMID 9272147. S2CID 615040.
  7. ^ Perry, GH; Dominy, NJ; Claw, KG; et al. (2007). "Diet and the evolution of human gene copy number variation". Nat. Genet. 39 (10): 1256–1260. doi:10.1038/ng2123. PMC 2377015. PMID 17828263.
  8. ^ Lee, Charles; Iafrate, A John; Brothman, Arthur R. (2007). "Copy number variations and clinical cytogenetic diagnosis of constitutional disorders". Nat. Genet. 39 (7s): S48–54. doi:10.1038/ng2092. PMID 17597782. S2CID 23031436.
  9. ^ Perry, G. H.; Ben-Dor, A.; Tsalenko, A.; Sampas, N.; Rodriguez-Revenga, L.; Tran, C. W.; Scheffer, A.; Steinfeld, I.; Tsang, P.; Yamada, N. A.; Park, H. S.; Kim, J. I.; Seo, J. S.; Yakhini, Z.; Laderman, S.; Bruhn, L.; Lee, C. (2008). "The fine-scale and complex architecture of human copy number variation". Am J Hum Genet. 82 (3): 685–695. doi:10.1016/j.ajhg.2007.12.010. PMC 2661628. PMID 18304495.
  10. ^ Mills, RE; Walter, K; Stewart, C; et al. (2011). "Mapping copy number variation by population-scale genome sequencing". Nature. 470 (7332): 59–65. Bibcode:2011Natur.470...59.. doi:10.1038/nature09708. PMC 3077050. PMID 21293372.
  11. ^ Brown, Kim H.; Dobrinski, Kimberly P.; Lee, Arthur S.; Gokcumen, Omer; Mills, Ryan E.; Shi, Xinghua; Chong, Wilson W. S.; Chen, Jin Yun Helen; Yoo, Paulo; David, Sthuthi; Peterson, Samuel M.; Raj, Towfique; Choy, Kwong Wai; Stranger, Barbara E.; Williamson, Robin E.; Zon, Leonard I.; Freeman, Jennifer L.; Lee, Charles (2012). "Extensive genetic diversity and sub-structuring among zebrafish strains revealed through copy number variant analysis". Proc Natl Acad Sci USA. 109 (2): 529–534. Bibcode:2012PNAS..109..529B. doi:10.1073/pnas.1112163109. PMC 3258620. PMID 22203992.
  12. ^ Gokcumen, O; Tischler, V; Tica, J; Zhu, Q; Iskow, RC; Lee, E; Fritz, MH; Langdon, A; Stütz, AM; Pavlidis, P; Benes, V; Mills, RE; Park, PJ; Lee, C; Korbel, JO (2013). "Primate genome architecture influences structural variation mechanisms and functional consequences". Proc Natl Acad Sci USA. 110 (39): 15764–15769. Bibcode:2013PNAS..11015764G. doi:10.1073/pnas.1305904110. PMC 3785719. PMID 24014587.
  13. ^ Sudmant, Peter H.; Rausch, Tobias; Gardner, Eugene J.; Handsaker, Robert E.; Abyzov, Alexej; Huddleston, John; Zhang, Yan; Ye, Kai; Jun, Goo (2015-10-01). "An integrated map of structural variation in 2,504 human genomes". Nature. 526 (7571): 75–81. Bibcode:2015Natur.526...75.. doi:10.1038/nature15394. ISSN 0028-0836. PMC 4617611. PMID 26432246.
  14. ^ Zhu, Qihui; High, Frances A.; Zhang, Chengsheng; Cerveira, Eliza; Russell, Meaghan K.; Longoni, Mauro; Joy, Maliackal P.; Ryan, Mallory; Mil-Homens, Adam (2018-05-15). "Systematic analysis of copy number variation associated with congenital diaphragmatic hernia". Proceedings of the National Academy of Sciences of the United States of America. 115 (20): 5247–5252. Bibcode:2018PNAS..115.5247Z. doi:10.1073/pnas.1714885115. ISSN 1091-6490. PMC 5960281. PMID 29712845.