Resolving the complexity of the human genome using single-molecule sequencing
Chaisson, Mark J P, Huddleston, John, Dennis, Megan Y, Sudmant, Peter H, Malig, Maika, Hormozdiari, Fereydoun, Antonacci, Francesca, Surti, Urvashi, Sandstrom, Richard, Boitano, Matthew, Landolin, Jane M, Stamatoyannopoulos, John A, Hunkapiller, Michael W, Korlach, Jonas, Eichler, Evan E
Published in Nature (London) (29.01.2015)
Published in Nature (London) (29.01.2015)
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Copy number variation detection and genotyping from exome sequence data
Krumm, Niklas, Sudmant, Peter H, Ko, Arthur, O'Roak, Brian J, Malig, Maika, Coe, Bradley P, Quinlan, Aaron R, Nickerson, Deborah A, Eichler, Evan E
Published in Genome research (01.08.2012)
Published in Genome research (01.08.2012)
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O' ROAK, Brian J, VIVES, Laura, TURNER, Emily H, STANAWAY, Ian B, VERNOT, Benjamin, MALIG, Maika, BAKER, Carl, REFFLY, Beau, AKEY, Joshua M, BORENSTEIN, Elhanan, RIEDER, Mark J, NICKERSON, Deborah A, GIRIRAJAN, Santhosh, BERNIER, Raphael, SHENDURE, Jay, EICHLER, Evan E, KARAKOC, Emre, KRUMM, Niklas, COE, Bradley P, LEVY, Roie, KO, Arthur, LEE, Choli, SMITHY, Joshua D
Published in Nature (London) (10.05.2012)
Published in Nature (London) (10.05.2012)
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Long-read sequence assembly of the gorilla genome
Gordon, David, Huddleston, John, Chaisson, Mark J. P., Hill, Christopher M., Kronenberg, Zev N., Munson, Katherine M., Malig, Maika, Raja, Archana, Fiddes, Ian, Hillier, LaDeana W., Dunn, Christopher, Baker, Carl, Armstrong, Joel, Diekhans, Mark, Paten, Benedict, Shendure, Jay, Wilson, Richard K., Haussler, David, Chin, Chen-Shan, Eichler, Evan E.
Published in Science (American Association for the Advancement of Science) (01.04.2016)
Published in Science (American Association for the Advancement of Science) (01.04.2016)
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Personalized copy number and segmental duplication maps using next-generation sequencing
Eichler, Evan E, Alkan, Can, Kidd, Jeffrey M, Marques-Bonet, Tomas, Aksay, Gozde, Antonacci, Francesca, Hormozdiari, Fereydoun, Kitzman, Jacob O, Baker, Carl, Malig, Maika, Mutlu, Onur, Sahinalp, S Cenk, Gibbs, Richard A
Published in Nature genetics (01.10.2009)
Published in Nature genetics (01.10.2009)
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Journal Article
Reconstructing complex regions of genomes using long-read sequencing technology
Huddleston, John, Ranade, Swati, Malig, Maika, Antonacci, Francesca, Chaisson, Mark, Hon, Lawrence, Sudmant, Peter H, Graves, Tina A, Alkan, Can, Dennis, Megan Y, Wilson, Richard K, Turner, Stephen W, Korlach, Jonas, Eichler, Evan E
Published in Genome research (01.04.2014)
Published in Genome research (01.04.2014)
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Journal Article
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.
Published in Cell (11.05.2012)
Published in Cell (11.05.2012)
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Journal Article
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation
Watson, Corey T., Steinberg, Karyn M., Huddleston, John, Warren, Rene L., Malig, Maika, Schein, Jacqueline, Willsey, A. Jeremy, Joy, Jeffrey B., Scott, Jamie K., Graves, Tina A., Wilson, Richard K., Holt, Robert A., Eichler, Evan E., Breden, Felix
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H, Schraiber, Joshua G, Narvaiza, Iñigo, Sudmant, Peter H, Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly A F, Marchetto, Maria C N, Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M, Amemiya, Chris T, Gage, Fred H, Reymond, Alexandre, Eichler, Evan E
Published in Nature (London) (11.08.2016)
Published in Nature (London) (11.08.2016)
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Mapping and sequencing of structural variation from eight human genomes
Eichler, Evan E, Kidd, Jeffrey M, Cooper, Gregory M, Donahue, William F, Hayden, Hillary S, Sampas, Nick, Graves, Tina, Hansen, Nancy, Teague, Brian, Alkan, Can, Antonacci, Francesca, Haugen, Eric, Zerr, Troy, Yamada, N. Alice, Tsang, Peter, Newman, Tera L, Tüzün, Eray, Cheng, Ze, Ebling, Heather M, Tusneem, Nadeem, David, Robert, Gillett, Will, Phelps, Karen A, Weaver, Molly, Saranga, David, Brand, Adrianne, Tao, Wei, Gustafson, Erik, McKernan, Kevin, Chen, Lin, Malig, Maika, Smith, Joshua D, Korn, Joshua M, McCarroll, Steven A, Altshuler, David A, Peiffer, Daniel A, Dorschner, Michael, Stamatoyannopoulos, John, Schwartz, David, Nickerson, Deborah A, Mullikin, James C, Wilson, Richard K, Bruhn, Laurakay, Olson, Maynard V, Kaul, Rajinder, Smith, Douglas R
Published in Nature (01.05.2008)
Published in Nature (01.05.2008)
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Journal Article
Evolution and diversity of copy number variation in the great ape lineage
Sudmant, Peter H, Huddleston, John, Catacchio, Claudia R, Malig, Maika, Hillier, Ladeana W, Baker, Carl, Mohajeri, Kiana, Kondova, Ivanela, Bontrop, Ronald E, Persengiev, Stephan, Antonacci, Francesca, Ventura, Mario, Prado-Martinez, Javier, Marques-Bonet, Tomas, Eichler, Evan E
Published in Genome research (01.09.2013)
Published in Genome research (01.09.2013)
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Journal Article
Bovine NK-lysin: Copy number variation and functional diversification
Chen, Junfeng, Huddleston, John, Buckley, Reuben M, Malig, Maika, Lawhon, Sara D, Skow, Loren C, Lee, Mi Ok, Eichler, Evan E, Andersson, Leif, Womack, James E
Published in Proceedings of the National Academy of Sciences - PNAS (29.12.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (29.12.2015)
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An evolutionary driver of interspersed segmental duplications in primates
Cantsilieris, Stuart, Sunkin, Susan M, Johnson, Matthew E, Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L, Underwood, Jason G, Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E, Sorensen, Melanie, Munson, Katherine M, Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T, Conlon, Ronald A, Eichler, Evan E
Published in Genome Biology (10.08.2020)
Published in Genome Biology (10.08.2020)
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Structural diversity and African origin of the 17q21.31 inversion polymorphism
STEINBERG, Karyn Meltz, ANTONACCI, Francesca, LEMA, Godfrey, NYAMBO, Thomas B, OMAR, Sabah A, BODO, Jean-Marie, FROMENT, Alain, DONNELLY, Michael P, KIDD, Kenneth K, TISHKOFF, Sarah A, EICHLER, Evan E, SUDMANT, Peter H, KIDD, Jeffrey M, CAMPBELL, Catarina D, VIVES, Laura, MALIG, Maika, SCHEINFELDT, Laura, BEGGS, William, IBRAHIM, Muntaser
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Alu repeat discovery and characterization within human genomes
Hormozdiari, Fereydoun, Alkan, Can, Ventura, Mario, Hajirasouliha, Iman, Malig, Maika, Hach, Faraz, Yorukoglu, Deniz, Dao, Phuong, Bakhshi, Marzieh, Sahinalp, S Cenk, Eichler, Evan E
Published in Genome research (01.06.2011)
Published in Genome research (01.06.2011)
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The evolution and population diversity of human-specific segmental duplications
Dennis, Megan Y, Harshman, Lana, Nelson, Bradley J, Penn, Osnat, Cantsilieris, Stuart, Huddleston, John, Antonacci, Francesca, Penewit, Kelsi, Denman, Laura, Raja, Archana, Baker, Carl, Mark, Kenneth, Malig, Maika, Janke, Nicolette, Espinoza, Claudia, Stessman, Holly A F, Nuttle, Xander, Hoekzema, Kendra, Lindsay-Graves, Tina A, Wilson, Richard K, Eichler, Evan E
Published in Nature ecology & evolution (01.01.2017)
Published in Nature ecology & evolution (01.01.2017)
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Epigenetic origin of evolutionary novel centromeres
Tolomeo, Doron, Capozzi, Oronzo, Stanyon, Roscoe R, Archidiacono, Nicoletta, D'Addabbo, Pietro, Catacchio, Claudia R, Purgato, Stefania, Perini, Giovanni, Schempp, Werner, Huddleston, John, Malig, Maika, Eichler, Evan E, Rocchi, Mariano
Published in Scientific reports (03.02.2017)
Published in Scientific reports (03.02.2017)
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Characterization of missing human genome sequences and copy-number polymorphic insertions
Malig, Maika, Fulton, Robert, Kallicki, Joelle, Tsalenko, Anya, Hayden, Hillary S, Graves, Tina, Alkan, Can, Tsang, Peter, Sampas, Nick, Wilson, Richard K, Anderson, Paige, Bruhn, Laurakay, Antonacci, Francesca, Giannuzzi, Giuliana, Yamada, N Alice, Eichler, Evan E, Kidd, Jeffrey M, Kaul, Rajinder, Ventura, Mario
Published in Nature methods (01.05.2010)
Published in Nature methods (01.05.2010)
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Rates and patterns of great ape retrotransposition
Hormozdiari, Fereydoun, Konkel, Miriam K., Prado-Martinez, Javier, Chiatante, Giorgia, Herraez, Irene Hernando, Walker, Jerilyn A., Nelson, Benjamin, Alkan, Can, Sudmant, Peter H., Huddleston, John, Catacchio, Claudia R., Ko, Arthur, Malig, Maika, Baker, Carl, Marques-Bonet, Tomas, Ventura, Mario, Batzer, Mark A., Eichler, Evan E.
Published in Proceedings of the National Academy of Sciences - PNAS (13.08.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (13.08.2013)
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Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma
Campbell, Catarina D, Mohajeri, Kiana, Malig, Maika, Hormozdiari, Fereydoun, Nelson, Benjamin, Du, Gaixin, Patterson, Kristen M, Eng, Celeste, Torgerson, Dara G, Hu, Donglei, Herman, Catherine, Chong, Jessica X, Ko, Arthur, O'Roak, Brian J, Krumm, Niklas, Vives, Laura, Lee, Choli, Roth, Lindsey A, Rodriguez-Cintron, William, Rodriguez-Santana, Jose, Brigino-Buenaventura, Emerita, Davis, Adam, Meade, Kelley, LeNoir, Michael A, Thyne, Shannon, Jackson, Daniel J, Gern, James E, Lemanske, Jr, Robert F, Shendure, Jay, Abney, Mark, Burchard, Esteban G, Ober, Carole, Eichler, Evan E
Published in PloS one (12.08.2014)
Published in PloS one (12.08.2014)
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