A chromosome-level genome of Astyanax mexicanus surface fish for comparing population-specific genetic differences contributing to trait evolution

Autor: Wesley C. Warren, Tyler E. Boggs, Richard Borowsky, Brian M. Carlson, Estephany Ferrufino, Joshua B. Gross, LaDeana Hillier, Zhilian Hu, Alex C. Keene, Alexander Kenzior, Johanna E. Kowalko, Chad Tomlinson, Milinn Kremitzki, Madeleine E. Lemieux, Tina Graves-Lindsay, Suzanne E. McGaugh, Jeffrey T. Miller, Mathilda T. M. Mommersteeg, Rachel L. Moran, Robert Peuß, Edward S. Rice, Misty R. Riddle, Itzel Sifuentes-Romero, Bethany A. Stanhope, Clifford J. Tabin, Sunishka Thakur, Yoshiyuki Yamamoto, Nicolas Rohner

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)

Mexican Tetra cavefish have long been of interest in understanding adaptation to severe environmental change. Here the authors present a chromosome-level genome for the proxy-ancestral surface fish, and use CRISPR gene-editing to show the role of the

Externí odkaz: https://doaj.org/article/e0b3331ea2974ca4af008dc49760b084

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Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H ( CFH ) gene family

Autor: 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.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2018 May 01. 115(19), E4433-E4442.

Externí odkaz: https://www.jstor.org/stable/26509613

The complete sequence of a human genome

Autor: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Ying Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy

Publikováno v: Science (New York, N.Y.), vol 376, iss 6588

Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2d
https://doi.org/10.1126/science.abj6987

Familial long-read sequencing increases yield of de novo mutations

Autor: Michelle D. Noyes, William T. Harvey, David Porubsky, Arvis Sulovari, Ruiyang Li, Nicholas R. Rose, Peter A. Audano, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, Tuomo Mantere, Tina A. Graves-Lindsay, Ashley D. Sanders, Sara Goodwin, Melissa Kramer, Younes Mokrab, Michael C. Zody, Alexander Hoischen, Jan O. Korbel, W. Richard McCombie, Evan E. Eichler

Publikováno v: American Journal of Human Genetics, 109, 631-646
American Journal of Human Genetics, 109, 4, pp. 631-646
Am J Hum Genet

Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and complex regions of the genome because these regions cannot be unambiguously mapped with short-read sequencing data. To better understand the genome-wide pattern

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bd9c7a2c56450a8a67447f01159d4a
https://doi.org/10.1016/j.ajhg.2022.02.014