Now showing items 1-14 of 14

    • Analysis of somatic retrotransposition in human cancers 

      Lee, Eunjung; Iskow, Rebecca; Yang, Lixing; Gokcumen, Omer; Haseley, Psalm; Luquette, Lovelace J.; Lohr, Jens Guenter; Harris, Christopher C; Ding, Li; Wilson, Richard K.; Wheeler, David A.; Gibbs, Richard A; Kucherlapati, Raju; Lee, Charles; Kharchenko, Peter Vasili; Park, Peter J. (BioMed Central, 2012)
    • Anomalies: Closed-End Mutual Funds 

      Lee, Charles; Shleifer, Andrei; Thaler, Richard H (American Economic Association, 1990)
    • Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence 

      Gokcumen, Omer; Zhu, Qihui; Mulder, Lubbertus C. F.; Iskow, Rebecca C.; Austermann, Christian; Scharer, Christopher D.; Raj, Towfique; Boss, Jeremy M.; Sunyaev, Shamil R.; Price, Alkes; Stranger, Barbara; Simon, Viviana; Lee, Charles (Public Library of Science, 2013)
      Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of the structure of modern human genomes. We identified a ∼36-kb ...
    • Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration 

      Chiang, Colby; Jacobsen, Jessie C.; Ernst, Carl; Hanscom, Carrie; Heilbut, Adrian; Blumenthal, Ian; Mills, Ryan E.; Kirby, Andrew; Rudiger, Skye R.; McLaughlan, Clive J.; Bawden, C. Simon; Reid, Suzanne J.; Faull, Richard L. M.; Snell, Russell G.; Hall, Ira M.; Ohsumi, Toshiro K.; Shen, Yiping; Borowsky, Mark L; Daly, Mark Joseph; Lee, Charles; Morton, Cynthia Casson; MacDonald, Marcy Elizabeth; Gusella, James Francis; Talkowski, Michael Edward; Lindgren, Amelia M. (Nature Publishing Group, 2012)
      We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently ...
    • Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population 

      Park, Hansoo; Lee, Seungbok; Kim, Hyun-Jin; Ju, Young Seok; Shin, Jong-Yeon; Hong, Dongwan; von Grotthuss, Marcin; Lee, Dong-Sung; Park, Changho; Kim, Jennifer; Kim, Boram; Yoo, Yun Joo; Cho, Sung-Il; Sung, Joohon; Lee, Charles; Kim, Jong-Il; Seo, Jeong-Sun (BMJ Publishing Group, 2012)
      Background: Musical abilities such as recognising music and singing performance serve as means for communication and are instruments in sexual selection. Specific regions of the brain have been found to be activated by ...
    • Cross-Species Array Comparative Genomic Hybridization Identifies Novel Oncogenic Events in Zebrafish and Human Embryonal Rhabdomyosarcoma 

      Chen, Eleanor Y.; Dobrinski, Kimberly P.; Brown, Kim H.; Clagg, Ryan; Edelman, Elena; Ignatius, Myron S.; Chen, Jin Yun Helen; Brockmann, Jillian; Nielsen, G. Petur; Ramaswamy, Sridhar; Keller, Charles; Lee, Charles; Langenau, David M. (Public Library of Science, 2013)
      Human cancer genomes are highly complex, making it challenging to identify specific drivers of cancer growth, progression, and tumor maintenance. To bypass this obstacle, we have applied array comparative genomic hybridization ...
    • EGFRMutation Is a Better Predictor of Response to Tyrosine Kinase Inhibitors in Non–Small Cell Lung Carcinoma Than FISH, CISH, and Immunohistochemistry 

      Sholl, Lynette Marie; Xiao, Yun; Joshi, Victoria; Yeap, Beow Yong; Cioffredi, Leigh-Anne; Jackman, David M; Lee, Charles; Janne, Pasi Antero; Lindeman, Neal I. (Oxford University Press (OUP), 2010)
      About 10% of patients with non–small cell lung carcinoma (NSCLC) respond to epidermal growth factor receptor (EGFR)-targeted tyrosine kinase inhibitors (TKIs). More than 75% of “responders” have activating mutations in ...
    • Extensive Genetic Diversity and Substructuring Among Zebrafish Strains Revealed through Copy Number Variant Analysis 

      Brown, Kim; Dobrinski, Kimberly P.; Lee, Arthur S.; Gokcumen, Omer; Mills, Ryan; Shi, Xinghua; Chong, Wilson W. S.; Chen, Jin Yun Helen; Yoo, Paulo; David, Sthuthi; Peterson, Samuel M.; Raj, Towfique; Choy, Kwong Wai; Stranger, Barbara; Williamson, Robin E.; Zon, Leonard Ira; Freeman, Jennifer L.; Lee, Charles (Proceedings of the National Academy of Sciences, 2012)
      Copy number variants (CNVs) represent a substantial source of genomic variation in vertebrates and have been associated with numerous human diseases. Despite this, the extent of CNVs in the zebrafish, an important model ...
    • Investor Sentiment and the Closed-End Fund Puzzle 

      Lee, Charles; Shleifer, Andrei; Thaler, Richard H. (Wiley, 1991)
      This paper examines the proposition that fluctuations in discounts on closed end funds are driven by changes in individual investor sentiment toward closed end funds and other securities. The theory implies that discounts ...
    • A Map of Human Genome Variation from Population Scale Sequencing 

      Altshuler, David Matthew; Lander, Eric Steven; Ambrogio, Lauren; Bloom, Toby; Cibulskis, Kristian; Fennell, Tim J.; Gabriel, Stacey B.; Jaffe, David B.; Shefler, Erica; Sougnez, Carrie L.; Lee, Charles; Mills, Ryan Edward; Shi, Xinghua; Daly, Mark Joseph; DePristo, Mark A.; Ball, Aaron D.; Banks, Eric; Browning, Brian L.; Garimella, Kiran V.; Grossman, Sharon Rachel; Handsaker, Robert E; Hanna, Matt; Hartl, Chris; Kernytsky, Andrew M.; Korn, Joshua M.; Li, Heng; Maguire, Jared R.; McCarroll, Steven A.; Nemesh, James C.; McKenna, Aaron; Philippakis, Anthony Andrew; Poplin, Ryan E.; Price, Alkes; Rivas, Manuel A.; Sabeti, Pardis Christine; Schaffner, Stephen; Shlyakhter, Ilya (Nature Publishing Group, 2010)
      The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot ...
    • Mapping Copy Number Variation by Population Scale Genome Sequencing 

      Mills, Ryan Edward; Handsaker, Robert E; Korn, Joshua; Nemesh, James; Shi, Xinghua; Lee, Charles; McCarroll, Steven A.; Altshuler, David Matthew; Gabriel, Stacey B.; Lander, Eric Steven; Ambrogio, Lauren; Bloom, Toby; Cibulskis, Kristian; Fennell, Tim J.; Jaffe, David B.; Shefler, Erica; Sougnez, Carrie L.; Daly, Mark Joseph; DePristo, Mark A.; Ball, Aaron D.; Banks, Eric; Bloom, Toby; Browning, Brian L.; Garimella, Kiran V.; Grossman, Sharon Rachel; Handsaker, Robert E; Hanna, Matt; Hartl, Chris; Kernytsky, Andrew M.; Li, Heng; Maguire, Jared R.; McKenna, Aaron; Philippakis, Anthony Andrew; Poplin, Ryan E.; Price, Alkes; Rivas, Manuel A.; Sabeti, Pardis Christine; Schaffner, Stephen; Shlyakhter, Ilya; DePristo, Mark A.; Wilkinson, Jane (Nature Publishing Group, 2011)
      Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of ...
    • Refinement of Primate Copy Number Variation Hotspots Identifies Candidate Genomic Regions Evolving Under Positive Selection 

      Babb, Paul L; Iskow, Rebecca C; Mills, Ryan E; Ionita-Laza, Iuliana; Gokcumen, Omer; Zhu, Qihui; Shi, Xinghua; Vallender, Eric; Clark, Andrew G.; Johnson, Welkin Eric; Lee, Charles (BioMed Central, 2011)
      Background: Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results: In this study, we identified over 2,000 human CNVs that overlap with ...
    • ROS1 Immunohistochemistry for Detection of ROS1-Rearranged Lung Adenocarcinomas 

      Sholl, Lynette Marie; Sun, Heather; Butaney, Mohit; Zhang, Chengsheng; Lee, Charles; Janne, Pasi Antero; Rodig, Scott J. (Ovid Technologies (Wolters Kluwer Health), 2013)
      ROS1 gene rearrangements are reported in 1–2% of lung adenocarcinomas (ACA) and are associated with response to the multitargeted tyrosine kinase inhibitor, crizotinib. ROS1 rearrangements can be detected using fluorescence ...
    • Towards a Comprehensive Structural Variation Map of an Individual Human Genome 

      Pang, Andy W; MacDonald, Jeffrey R; Pinto, Dalila; Wei, John; Conrad, Donald F; Park, Hansoo; Hurles, Matthew E; Kirkness, Ewen F; Feuk, Lars; Scherer, Stephen W; Rafiq, Muhammad A; Lee, Charles; Venter, J. Craig; Levy, Samuel Gideon (BioMed Central, 2010)
      Background: Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions ...