Now showing items 1-5 of 5

    • 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)
    • 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 ...
    • 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 ...
    • Impact of constitutional copy number variants on biological pathway evolution 

      Poptsova, Maria; Banerjee, Samprit; Gokcumen, Omer; Rubin, Mark A; Demichelis, Francesca (BioMed Central, 2013)
      Background: Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations. ...
    • 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 ...