Search Results - "Graves, Tina A."

Reconstructing complex regions of genomes using long-read sequencing technology by 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

“…Obtaining high-quality sequence continuity of complex regions of recent segmental duplication remains one of the major challenges of finishing genome…”
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication by 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.

“…Gene duplication is an important source of phenotypic change and adaptive evolution. We leverage a haploid hydatidiform mole to identify highly identical…”
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Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation by 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

“…The immunoglobulin heavy-chain locus (IGH) encodes variable (IGHV), diversity (IGHD), joining (IGHJ), and constant (IGHC) genes and is responsible for antibody…”
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Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content by Page, David C, Hughes, Jennifer F, Skaletsky, Helen, Pyntikova, Tatyana, Graves, Tina A, van Daalen, Saskia K. M, Minx, Patrick J, Fulton, Robert S, McGrath, Sean D, Locke, Devin P, Friedman, Cynthia, Trask, Barbara J, Mardis, Elaine R, Warren, Wesley C, Repping, Sjoerd, Rozen, Steve, Wilson, Richard K

“…The human Y chromosome began to evolve from an autosome hundreds of millions of years ago, acquiring a sex-determining function and undergoing a series of…”
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The structure, function and evolution of a complete human chromosome 8 by Logsdon, Glennis A., Vollger, Mitchell R., Hsieh, PingHsun, Mao, Yafei, Liskovykh, Mikhail A., Koren, Sergey, Nurk, Sergey, Mercuri, Ludovica, Dishuck, Philip C., Rhie, Arang, de Lima, Leonardo G., Dvorkina, Tatiana, Porubsky, David, Harvey, William T., Mikheenko, Alla, Bzikadze, Andrey V., Kremitzki, Milinn, Graves-Lindsay, Tina A., Jain, Chirag, Hoekzema, Kendra, Murali, Shwetha C., Munson, Katherine M., Baker, Carl, Sorensen, Melanie, Lewis, Alexandra M., Surti, Urvashi, Gerton, Jennifer L., Larionov, Vladimir, Ventura, Mario, Miga, Karen H., Phillippy, Adam M., Eichler, Evan E.

“…The complete assembly of each human chromosome is essential for understanding human biology and evolution 1 , 2 . Here we use complementary long-read…”
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Characterizing the Major Structural Variant Alleles of the Human Genome by Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.

“…In order to provide a comprehensive resource for human structural variants (SVs), we generated long-read sequence data and analyzed SVs for fifteen human…”
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Discovery and genotyping of structural variation from long-read haploid genome sequence data by Huddleston, John, Chaisson, Mark J P, Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A, Munson, Katherine M, Kronenberg, Zev N, Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K, Eichler, Evan E

“…In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from…”
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Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus by Mueller, Michael, Barros, Paula, Witherden, Abigail S., Roberts, Amy L., Zhang, Zhou, Schaschl, Helmut, Yu, Chack-Yung, Hurles, Matthew E., Schaffner, Catherine, Floto, R. Andres, Game, Laurence, Steinberg, Karyn Meltz, Wilson, Richard K., Graves, Tina A., Eichler, Evan E., Cook, H. Terence, Vyse, Timothy J., Aitman, Timothy J.

“…Reduced FCGR3B copy number is associated with increased risk of systemic lupus erythematosus (SLE). The five FCGR2/FCGR3 genes are arranged across two highly…”
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A burst of segmental duplications in the genome of the African great ape ancestor by Eichler, Evan E, Marques-Bonet, Tomas, Kidd, Jeffrey M, Ventura, Mario, Graves, Tina A, Cheng, Ze, Hillier, LaDeana W, Jiang, Zhaoshi, Baker, Carl, Malfavon-Borja, Ray, Fulton, Lucinda A, Alkan, Can, Aksay, Gozde, Girirajan, Santhosh, Siswara, Priscillia, Chen, Lin, Cardone, Maria Francesca, Navarro, Arcadi, Mardis, Elaine R, Wilson, Richard K

“…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…”
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Evolutionary toggling of the MAPT 17q21.31 inversion region by Warren, Wesley C, Cardone, Maria Francesca, Abouelleil, Amr, Hardy, John, Hillier, LaDeana W, Glasscock, Jarret, Eichler, Evan E, Jiang, Zhaoshi, Graves, Tina A, Chen, Lin, Reily, Amy Denise, Antonacci, Francesca, Kidd, Jeffrey M, Fung, Hon-Chung, Wallis, John, Zody, Michael C, Duckworth, Jaime, Wilson, Richard K, Cheng, Ze, Ventura, Mario

“…Evan Eichler and colleagues present a sequence assembly of the inverted H2 haplotype of human chromosome 17q21.31 and show that the inversion is polymorphic in…”
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The physical and genetic framework of the maize B73 genome by Wei, Fusheng, Zhang, Jianwei, Zhou, Shiguo, He, Ruifeng, Schaeffer, Mary, Collura, Kristi, Kudrna, David, Faga, Ben P, Wissotski, Marina, Golser, Wolfgang, Rock, Susan M, Graves, Tina A, Fulton, Robert S, Coe, Ed, Schnable, Patrick S, Schwartz, David C, Ware, Doreen, Clifton, Sandra W, Wilson, Richard K, Wing, Rod A

“…Maize is a major cereal crop and an important model system for basic biological research. Knowledge gained from maize research can also be used to genetically…”
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Single haplotype assembly of the human genome from a hydatidiform mole by Steinberg, Karyn Meltz, Schneider, Valerie A, Graves-Lindsay, Tina A, Fulton, Robert S, Agarwala, Richa, Huddleston, John, Shiryev, Sergey A, Morgulis, Aleksandr, Surti, Urvashi, Warren, Wesley C, Church, Deanna M, Eichler, Evan E, Wilson, Richard K

“…A complete reference assembly is essential for accurately interpreting individual genomes and associating variation with phenotypes. While the current human…”
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The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2 by Ventura, Mario, Catacchio, Claudia R, Sajjadian, Saba, Vives, Laura, Sudmant, Peter H, Marques-Bonet, Tomas, Graves, Tina A, Wilson, Richard K, Eichler, Evan E

“…Chimpanzee and gorilla chromosomes differ from human chromosomes by the presence of large blocks of subterminal heterochromatin thought to be composed…”
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Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages by Hughes, Jennifer F, Skaletsky, Helen, Pyntikova, Tatyana, Koutseva, Natalia, Raudsepp, Terje, Brown, Laura G, Bellott, Daniel W, Cho, Ting-Jan, Dugan-Rocha, Shannon, Khan, Ziad, Kremitzki, Colin, Fronick, Catrina, Graves-Lindsay, Tina A, Fulton, Lucinda, Warren, Wesley C, Wilson, Richard K, Owens, Elaine, Womack, James E, Murphy, William J, Muzny, Donna M, Worley, Kim C, Chowdhary, Bhanu P, Gibbs, Richard A, Page, David C

“…Studies of Y Chromosome evolution have focused primarily on gene decay, a consequence of suppression of crossing-over with the X Chromosome. Here, we provide…”
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Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family by Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, Eichler, Evan E.

“…Structural variation and single-nucleotide variation of the complement factor H (CFH) gene family underlie several complex genetic diseases, including…”
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Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability by Antonacci, Francesca, Dennis, Megan Y, Huddleston, John, Sudmant, Peter H, Steinberg, Karyn Meltz, Rosenfeld, Jill A, Miroballo, Mattia, Graves, Tina A, Vives, Laura, Malig, Maika, Denman, Laura, Raja, Archana, Stuart, Andrew, Tang, Joyce, Munson, Brenton, Shaffer, Lisa G, Amemiya, Chris T, Wilson, Richard K, Eichler, Evan E

“…Evan Eichler and colleagues present a detailed characterization of the chromosome 15q13.3 microdeletion region. They identify complex structural polymorphisms…”
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Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region by Mohajeri, Kiana, Cantsilieris, Stuart, Huddleston, John, Nelson, Bradley J, Coe, Bradley P, Campbell, Catarina D, Baker, Carl, Harshman, Lana, Munson, Katherine M, Kronenberg, Zev N, Kremitzki, Milinn, Raja, Archana, Catacchio, Claudia Rita, Graves, Tina A, Wilson, Richard K, Ventura, Mario, Eichler, Evan E

“…Recurrent rearrangements of Chromosome 8p23.1 are associated with congenital heart defects and developmental delay. The complexity of this region has led to…”
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Punctuated duplication seeding events during the evolution of human chromosome 2p11 by Horvath, Julie E, Gulden, Cassandra L, Vallente, Rhea U, Eichler, Marla Y, Ventura, Mario, McPherson, John D, Graves, Tina A, Wilson, Richard K, Schwartz, Stuart, Rocchi, Mariano, Eichler, Evan E

“…Primate genomic sequence comparisons are becoming increasingly useful for elucidating the evolutionary history and organization of our own genome. Such studies…”
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The evolution and population diversity of human-specific segmental duplications by 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.

“…Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution,…”
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A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk by Antonacci, Francesca, Kidd, Jeffrey M, Ballif, Blake C, Graves, Tina A, Eichler, Evan E, Rosenfeld, Jill A, Shaffer, Lisa G, Schwartz, David C, Campbell, Catarina D, Malig, Maika, Girirajan, Santhosh, Alkan, Can, Marques-Bonet, Tomas, Teague, Brian, Vives, Laura, Wilson, Richard K, Ventura, Mario

“…Evan Eichler and colleagues identify a large, complex structural polymorphism at 16p12.1 in a region previously associated with neurocognitive disease. They…”
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