Charles Lee (scientist)

Charles Lee is Director and Professor of The Jackson Laboratory for Genomic Medicine 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 two human CNV maps[2][3] that are now actively used in the diagnoses of array based genetic tests. Dr. Lee is also a Distinguished Professor at Ewha Woman's University and the current President of the Human Genome Organisation (HUGO).

Charles Lee
Born (1969-04-01) April 1, 1969
Seoul, Korea
NationalityCanada
Alma materUniversity of Alberta
Scientific career
FieldsHuman genomics, cytogenetics, pathology
InstitutionsThe Jackson Laboratory for Genomic Medicine
Doctoral advisorDr. C.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*, Jones KW*, Scherer SW*, Hurles ME*, Lee C*. 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, Stone AC*, Lee C*. 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]
  • 2009: Kim JI, Ju Y, Park H, Kim S, Lee S, Yi JH, ... , Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS. A highly annotated whole genome sequence of a Korean individual. Nature. 2009; 460: 1011-5[10]
  • 2010: Conrad D, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, ... , Tyler-Smith C*, Carter NP*, Scherer SW*, Hurles ME*, Lee C*. 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*, McCarroll SA*, Korbel, JO*, Lee C*. Mapping copy number variation by population-scale genome sequencing. Nature. 2011; 470: 59-65[11] *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[12]
  • 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, Korbel JO*, Lee C*. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci USA 2013; 110: 15764-9[13] *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 numan genomes. Nature 2015; 526: 75-81[14]
  • 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[15]

Awards / Appointments

References
  1. 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. 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. 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
  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.
  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.
  9. "The fine-scale and complex architecture of human copy number variation". Am J Hum Genet. 82: 685–695. 2008.
  10. Kim, JI; Ju, YS; Park, H; Kim, S; Lee, S; Yi, JH; Mudge, J; Miller, NA; Hong, D; Bell, CJ; Kim, HS; Chung, IS; Lee, WC; Lee, JS; Seo, SH; Yun, JY; Woo, HN; Lee, H; Suh, D; Lee, S; Kim, HJ; Yavartanoo, M; Kwak, M; Zheng, Y; Lee, MK; Park, H; Kim, JY; Gokcumen, O; Mills, RE; Zaranek, AW; Thakuria, J; Wu, X; Kim, RW; Huntley, JJ; Luo, S; Schroth, GP; Wu, TD; Kim, H; Yang, KS; Park, WY; Kim, H; Church, GM; Lee, C; Kingsmore, SF; Seo, JS (2009). "A highly annotated whole genome sequence of a Korean individual". Nature. 460 (7258): 1011–1015. Bibcode:2009Natur.460.1011K. doi:10.1038/nature08211. PMC 2860965. PMID 19587683.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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. doi:10.1073/pnas.1714885115. ISSN 1091-6490. PMC 5960281. PMID 29712845.
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