Charles Lee (scientist)

Charles Lee
Born	April 1, 1969 Seoul, Korea
Residence	United States of America
Nationality	Canada
Fields	Human Genomics, Cytogenetics, Pathology
Institutions	The Jackson Laboratory for Genomic Medicine
Alma mater	University of Alberta
Doctoral advisor	Dr. C.C. Lin

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 was previously Director of the Molecular Genetic Research Unit at Brigham and Women's Hospital and Associate Professor at Harvard Medical School.

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^[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^[6]
• 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^[7] *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^[8] *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^[9]
• 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^[10]
• 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^[11]
• 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^[12] *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^[13] *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^[14]
• 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^[15] *Co-senior author

Awards

• 2007  : American Association for Cancer Research Team Award
• 2007-: Honorary Professor, Chinese University of Hong Kong, Hong Kong
• 2008  : Ho-am Prize in Medicine
• 2010  : George W. Brumley Jr, MD Memorial Award (Duke University)
• 2012  : Vandenberghe Chair Award (Katholic University of Leuven, Belgium)
• 2012  : Chen Investigator Award (Human Genome Organization - HUGO)
• 2012  : Fellow, American Association for the Advancement of Science (AAAS)
• 2013-: Distinguished Visiting Professor, Seoul National University, Korea
• 2014  : Thomson Reuters Citation Laureate

References

1. "Detection of large-scale variation in the human genome". Nat. Genet. 36 (9): 949–951. 2004. doi:10.1038/ng1416. PMID 15286789.
2. "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. 2006. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
3. "Common copy number variation in the human genome: mechanism, selection and disease association". Nature. 464: 704–712. 2010. Bibcode:2010Natur.464..704.. doi:10.1038/nature08516.
4. "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: 156–159. 1993. doi:10.1159/000133525.
5. "Human centromeric DNAs". Human Genet. 100: 291–304. 1997. doi:10.1007/s004390050508.
6. "Detection of large-scale variation in the human genome". Nat. Genet. 36 (9): 949–951. 2004. doi:10.1038/ng1416. PMID 15286789.
7. "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. 2006. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
8. "Diet and the evolution of human gene copy number variation". Nat. Genet. 39: 1256–1260. 2007. doi:10.1038/ng2123. PMC 2377015. PMID 17828263.
9. "Copy number variations and clinical cytogenetic diagnosis of constitutional disorders". Nat. Genet. 39: S48-S54. 2007. doi:10.1038/ng2092.
10. "The fine-scale and complex architecture of human copy number variation". Am J Hum Genet. 82: 685–695. 2008.
11. "A highly annotated whole genome sequence of a Korean individual". Nature. 460: 1011–1015. 2009. Bibcode:2009Natur.460.1011K. doi:10.1038/nature08211.
12. "Common copy number variation in the human genome: mechanism, selection and disease association". Nature. 464: 704–712. 2010. Bibcode:2010Natur.464..704.. doi:10.1038/nature08516.
13. "Mapping copy number variation by population-scale genome sequencing". Nature. 470: 59–65. 2011. Bibcode:2011Natur.470...59.. doi:10.1038/nature09708. PMC 3077050. PMID 21293372.
14. "Extensive genetic diversity and sub-structuring among zebrafish strains revealed through copy number variant analysis". Proc Natl Acad Sci USA. 109: 529–534. 2012. Bibcode:2012PNAS..109..529B. doi:10.1073/pnas.1112163109.
15. "Primate genome architecture influences structural variation mechanisms and functional consequences". Proc Natl Acad Sci USA. 110: 15764–15769. 2013. Bibcode:2013PNAS..11015764G. doi:10.1073/pnas.1305904110.