Browsing by Author "Ventura, Mario"

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  • Marquès i Bonet, Tomàs, 1975-; Kidd, Jeffrey M.; Ventura, Mario; Graves, Tina A.; Cheng, Ze; Hillier, LeDeana W.; Jiang, Zhaoshi; Baker, Carl; Malfavon-Borja, Ray; Fulton, Lucinda; Alkan, Can; Aksay, Gozde; Girirajan, Santhosh; Siswara, Priscillia; Chen, Lin; Cardone, Maria Francesca; Navarro i Cuartiellas, Arcadi, 1969-; Mardis, Elaine R.; Wilson, Richard K.; Eichler, Evan E. (Nature Publishing Group, 2009)
    It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there ...
  • Bekpen, Cemalettin; Marquès i Bonet, Tomàs, 1975-; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia; Howard, Jonathan C.; Eichler, Evan E. (Public Library of Science (PLoS), 2009)
    Immunity-related GTPases (IRG) play an important role in defense against intracellular pathogens. One member of this gene family in humans, IRGM, has been recently implicated as a risk factor for Crohn's disease. We analyzed ...
  • Sudmant, Peter H.; Huddleston, John; Catacchio, Claudia R.; Malig, Maika; Hillier, LeDeana W.; Baker, Carl; Mohajeri, Kiana; Kondova, Ivanela; Bontrop, Ronald E.; Persengiev, Stephan; Antonacci, Francesca; Ventura, Mario; Prado Martínez, Javier, 1987-; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Project Great Ape Genome (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Copy number variation (CNV) contributes to disease and has restructured the genomes of great apes. The diversity and rate of this process, however, have not been extensively explored among great ape lineages. We analyzed ...
  • Giannuzzi, Giuliana; Siswara, Priscillia; Malig, Maika; Marquès i Bonet, Tomàs, 1975-; Mullikin, James C.; Ventura, Mario; Eichler, Evan E.; NISC Comparative Sequencing Program (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Core duplicons in the human genome represent ancestral duplication modules shared by the majority of intrachromosomal duplication blocks within a given chromosome. These cores are associated with the emergence of novel ...
  • Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marquès i Bonet, Tomàs, 1975-; Saijadian, Saba; Graves, Tina A.; Hormozdiari, Fereydoun; Navarro i Cuartiellas, Arcadi, 1969-; Malig, Maika; Baker, Carl; Lee, Choli; Turner, Emily H.; Chen, Lin; Kidd, Jeffrey M.; Archidiacono, Nicoletta; Shendure, Jay; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2011)
    Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched ...
  • Girirajan, Santhosh; Chen, Lin; Graves, Tina A.; Marquès i Bonet, Tomàs, 1975-; Ventura, Mario; Fronick, Catrina; Fulton, Lucinda; Rocchi, Mariano; Fulton, Robert S.; Wilson, Richard K.; Mardis, Elaine R.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2009)
    The gibbon genome exhibits extensive karyotypic diversity with an increased rate of chromosomal rearrangements during evolution. In an effort to understand the mechanistic origin and implications of these rearrangement ...
  • Ventura, Mario; Catacchio, Claudia R.; Saijadian, Saba; Vives, Laura; Sudmant, Peter H.; Marquès i Bonet, Tomàs, 1975-; Graves, Tina A.; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
    Chimpanzee and gorilla chromosomes differ from human chromosomes by the presence of large blocks of subterminal heterochromatin thought to be composed primarily of arrays of tandem satellite sequence. We explore their ...

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