Charles Lee (scientist)

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 with the subsequent development of genomic maps 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.

Education

 * 1990: BS in Genetics, University of Alberta
 * 1993: MS in Experimental Pathology, University of Alberta
 * 1996: PhD in Medical Sciences, University of Alberta
 * 1996–1999: NSERC Fellow, University of Cambridge, UK
 * 1999–2001: Clinical Cytogenetics Fellow, Harvard Medical School

Work
Positions held
 * 2001–2003: Instructor, Pathology, Harvard Medical School
 * 2003–2008: Assistant Professor, Pathology, Harvard Medical School
 * 2008–2013: Associate Professor, Pathology, Harvard Medical School
 * 2013: Director & Professor, The Jackson Laboratory for Genomic Medicine

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
 * 1997 : Lee C, Wevrick R, Fisher RB, Ferguson-Smith MA, Lin CC. Human centromeric DNAs. Hum Genet. 1997; 100: 291-304
 * 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
 * 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 *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 *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
 * 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
 * 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 *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 *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
 * 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 *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
 * 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
 * 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

 * 2007: American Association for Cancer Research Team Award
 * 2008: Ho-am Prize in Medicine
 * 2010: George W. Brumley Jr, MD Memorial Award (Duke University)
 * 2011–21: Honorary Professor, Chinese University of Hong Kong
 * 2012: Vandenberghe Chair Award (Katholic University of Leuven, Belgium)
 * 2012: Chen Award, Human Genome Organisation
 * 2012: Fellow, American Association for the Advancement of Science (AAAS)
 * 2013–: Affiliated Professor, University of Connecticut Health Sciences, USA
 * 2013–15: Distinguished Visiting Professor, Seoul National University, Korea
 * 2014: Thomson Reuters Citation Laureate
 * 2015–20: Distinguished EWHA Professor, Ewha Womans University, Korea
 * 2017–23: President, Human Genome Organisation
 * 2018: University of Alberta Distinguished Alumni Award
 * 2018–22: Adjunct Professor, First Affiliated Hospital of Xi'an Jiaotong University, China
 * 2020–22: Adjunct Professor, Gwangju Institute of Science and Technology, Korea
 * 2022–: The Robert Alvine Family Endowed Chair
 * 2024: Fellow, Korean Academy of Science and Technology