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チャールズ・リー (科学者)

出典: フリー百科事典『ウィキペディア（Wikipedia）』
Charles Lee
チャールズ・リー
生誕 (1969-04-01) 1969年4月1日（55歳）
大韓民国の旗 大韓民国・ソウル特別市
居住 アメリカ合衆国の旗 アメリカ合衆国
国籍 カナダの旗 カナダ
研究分野 ヒトゲノミクス, 細胞遺伝学, 病理学
研究機関 ジャクソン研究所
出身校 アルバータ大学
博士課程
指導教員		 Dr. C.C. Lin
プロジェクト:人物伝
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チャールズ・リー（Charles Lee、1969年4月1日 - ）は、大韓民国ソウル特別市生まれ、カナダ国籍、アメリカ合衆国の細胞遺伝学者。ジャクソン研究所のディレクター、教授。先進技術プラットフォームを用いて、構造ゲノム多型の同定や性質を研究している。彼の研究室は、初めてゲノムワイドでヒトの構造ゲノム多型（コピー数多型,CNV）を記載し[1]、遺伝子診断に用いられる2つのヒトCNVマップを作製した[2][3]。梨花女子大学校のディスティングイッシュトプロフェッサー、ヒト遺伝子解析機構の会長も務めている。

教育

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職歴

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  • 2001年-2003年 : 病理学講師（ハーバード大学医学大学院）
  • 2003年-2008年 : 病理学助教（ハーバード大学医学大学院）
  • 2008年-2013年 : 病理学准教授（ハーバード大学医学大学院）
  • 2013年: ディレクター、教授（ジャクソン研究所）

主な論文

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  • 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[4]
  • 1997 : Lee C, Wevrick R, Fisher RB, Ferguson-Smith MA, Lin CC. Human centromeric DNAs. Hum Genet. 1997; 100: 291-304[5]
  • 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[6] *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[7]
  • 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[8]
  • 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[9]
  • 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[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, Korbel JO*, Lee C*. 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 numan 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]

受賞等

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出典

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  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. ^ 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。
  5. ^ 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。
  6. ^ 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。
  7. ^ 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。
  8. ^ "The fine-scale and complex architecture of human copy number variation". Am J Hum Genet. 82: 685–695. 2008.
  9. ^ 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。
  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 (1 October 2015). "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 (15 May 2018). "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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