Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Valentin Ruano Rubio"'
Autor:
Sarah Auburn, Jutta Marfurt, Gareth Maslen, Susana Campino, Valentin Ruano Rubio, Magnus Manske, Barbara Machunter, Enny Kenangalem, Rintis Noviyanti, Leily Trianty, Boni Sebayang, Grennady Wirjanata, Kanlaya Sriprawat, Daniel Alcock, Bronwyn Macinnis, Olivo Miotto, Taane G Clark, Bruce Russell, Nicholas M Anstey, François Nosten, Dominic P Kwiatkowski, Ric N Price
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e53160 (2013)
Whole genome sequencing (WGS) of Plasmodium vivax is problematic due to the reliance on clinical isolates which are generally low in parasitaemia and sample volume. Furthermore, clinical isolates contain a significant contaminating background of host
Externí odkaz:
https://doaj.org/article/b2b44adb48a741479219665af047e369
Autor:
Mohamed Hassan Abdelraheem, Sonia Goncalves, Lemu Golassa, Tim Anderson, Desmond Omane Acheampong, Enoch Aninagyei, Ifeyinwa Aniebo, Patrick O Ansah, Felix Ansah, Gordon A Awandare, Paulo Arnaldo, Maciej F Boni, Gwladys I Bertin, Peter C Bull, Marielle Bouyou-Akotet, Keobouphaphone Chindavongsa, Edwin Kamau, Huch Cheah, Claire Kamaliddin, Vladimir Corredor, David J Conway, Nicholas Day, Abibatou Konaté, Erin Courtier, Theerarat Kochakarn, Arjen Dondorp, Abdoulaye Djimde, Diego F Echeverry, Seydou Doumbia, Mara Lawniczak, Pharath Lim, Sonia Maria Mauricio Enosse, Oumou Maïga-Ascofaré, Thomas G Egwang, Aung Myint Thu, Mark Fleharty, Jutta Marfurt, Caterina A Fanello, Mark Fukuda, Victor Mobegi, Matthew Forbes, Sara Anne Healy, G L Abby Harrison, Anastasia Hernandez-Koutoucheva, Jason A Hendry, Ivo Mueller, Francis Hombhanje, Harald Noedl, Catherine A Hill, Thuy-Nhien Nguyen, Mazza Hussein, Amanda Hott, Rintis Noviyanti, Scott A Jackson, Abraham Oduro, Deus Ishengoma, Harold Ocholla, Julia Jeans, Jean-Bosco Ouedraogo, Chris G Jacob, Drissa S Konate, Jon Keatley, Francois Nosten, Kolapo Oyebola, Myat P Kyaw, Aminatou Kone, Norbert Peshu, Samuel K Lee, Dennis Kyle, Kovana M Loua, Milijaona Randrianarivelojosia, Martha Lemnge, Sasithon Pukrittayakamee, Richard James Maude, Pascal Ringwald, Celine I Mandara, Abdelrahim Osman Mohamed, Toshihiro Mita, Jaqui Montgomery, Julian C Rayner, David Saunders, Olugbenga A Mokuolu, Lastenia Ruiz, Kathryn Murie, Peter Siba, Collins Misita Morang’a, Alex Shayo, Tuyen Nguyen Thi Kim, Thang Ngo Duc, Vincent Ntui-Njock Ntui, Colin Sutherland, Hong Nguyen Van, Xin-zhuan Su, Marie A Onyamboko, Livingstone Tavul, Irene Omedo, Richard Pearson, Antoinette Tshefu, Wellington Aghoghovwia Oyibo, Vandana Thathy, Chris Drakeley, Huynh Hong Quang, Joseph Vinetz, Christopher V Plowe, Federica Verra, Eduard Rovira-Vallbona, Jason Wendler, Anna Rosanas-Urgell, Teun Bousema, Thuy Nguyen, Mahamadou S. Sissoko, Valentin Ruano-Rubio, Alexis Nzila, Shannon Takala-Harrison, Christen Smith, William Yavo, Ngo Viet Thanh, Arthur Talman, Georgia Whitton, Mahamoudou Toure, Rob W van der Pluijm, Sarah Auburn, Antoine Claessens, Mahamadou Diakite, Kesinee Chotivanich, Mehul Dhorda, Olivo Miotto, Mallika Imwong, Mayfong Mayxay, Alfred Amambua-Ngwa, Philip Bejon, Elizabeth Ashley, Alyssa Barry, Rick M. Fairhurst, Ye Htut, Tran Tinh Hien, Kimberly J Johnson, Dominic P Kwiatkowski, Umberto D'Alessandro, Chanthap Lon, Paul N Newton, Aung P Phyo, Ric N Price, Victoria J Simpson, Kevin Marsh, Nicholas J White, Thomas E Wellems, Lynette Isabella Ochola-Oyier, Mozam Ali, Ambroise Ahouidi, Jacob Almagro-Garcia, Ben Andagalu, Lucas Amenga-Etego, Voahangy Andrianaranjaka, Tobias Apinjoh, Vito Baraka, Hampate Ba, Steffen Borrmann, Oralee Branch, Thanat Chookajorn, Souleymane Dama, Chanaki Amaratunga, Alister Craig, Brigitte Denis, Eleanor Drury, Christiane Dolecek, Patrick Duffy, Berhanu Erko, Abdul Faiz, Muzamil Mahdi Abdel Hamid, Anita Ghansah, Dionicia Gamboa
Publikováno v:
Wellcome Open Research, Vol 8 (2023)
We describe the MalariaGEN Pf7 data resource, the seventh release of Plasmodium falciparum genome variation data from the MalariaGEN network. It comprises over 20,000 samples from 82 partner studies in 33 countries, including several malaria endemic
Externí odkaz:
https://doaj.org/article/2fbdf38c803c46148a5a34cc811e3511
Autor:
Anne H. O’Donnell-Luria, Monkol Lek, James S. Ware, Kristen M. Laricchia, Benjamin M. Neale, Stacey Donnelly, Irina M. Armean, Jack A. Kosmicki, Stacey Gabriel, Christopher Vittal, David Roazen, Daniel R. Rhodes, Charlotte Tolonen, Matthew Solomonson, Laura D. Gauthier, Qingbo Wang, Andrea Ganna, Raymond K. Walters, Konrad J. Karczewski, Steven Ferriera, Thibault Jeandet, Jessica Alföldi, Mark J. Daly, Kristen M. Connolly, Kristian Cibulskis, Sam Novod, Timothy Poterba, Jeff Gentry, Yossi Farjoun, Moriel Singer-Berk, Diane Kaplan, Harrison Brand, Cotton Seed, Kaitlin E. Samocha, Michael E. Talkowski, Laurent C. Francioli, Molly Schleicher, Miguel Covarrubias, Jessica X. Chong, Christopher Llanwarne, Kathleen Tibbetts, Andrea Saltzman, Beryl B. Cummings, Grace Tiao, Sanna Gudmundsson, Nikelle Petrillo, Nicholas A. Watts, Jose Soto, Arcturus Wang, Daniel G. MacArthur, Valentin Ruano-Rubio, Eric Banks, Daniel P. Birnbaum, Eleanor G. Seaby, Ruchi Munshi, Gordon Wade, Nicola Whiffin, Louis Bergelson, Namrata Gupta, Eleina M. England, Katherine Tashman, Ryan L. Collins, Zachary Zappala, Emma Pierce-Hoffman, Eric Vallabh Minikel, Ben Weisburd
Publikováno v:
Nature
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4282a8c49253b8d2aa58f13df5b003ff
https://eprints.soton.ac.uk/468341/
https://eprints.soton.ac.uk/468341/
Autor:
Harold Z. Wang, Yii-Der Ida Chen, Elise Valkanas, Michael E. Talkowski, Kent D. Taylor, Xuefang Zhao, Henry J. Lin, Konrad J. Karczewski, Ryan L. Collins, Eric Banks, Benjamin M. Neale, Lauren Margolin, Christopher W. Whelan, Valentin Ruano-Rubio, Laura D. Gauthier, Stacey Gabriel, Harrison Brand, Namrata Gupta, Jessica Alföldi, Ruchi Munshi, Yongqing Huang, Daniel G. MacArthur, Laurent C. Francioli, Chad Nusbaum, Eric S. Lander, Mark J. Daly, Nicholas A. Watts, Anthony A. Philippakis, Matthew Solomonson, Sekar Kathiresan, Genome Aggregation Database Production Team, Wendy S. Post, Jack Fu, Alexander Baumann, Kristen M. Laricchia, Amit Khera, Ted Brookings, Anne H. O’Donnell-Luria, Jerome I. Rotter, Matthew R. Stone, Chelsea Lowther, Christine Stevens, Caroline N. Cusick, Ted Sharpe, Grace Tiao, Stephen S. Rich, Mark Walker
Publikováno v:
Nature, vol 581, iss 7809
Nature
Nature
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5850f851436ab9954eeebae9e54903b
https://escholarship.org/uc/item/25h6t9dp
https://escholarship.org/uc/item/25h6t9dp
Autor:
Zachary Zappala, Cotton Seed, Namrata Gupta, Kristen M. Laricchia, Daniel G. MacArthur, Nicholas A. Watts, Raymond K. Walters, Mark J. Daly, Yossi Farjoun, Andrea Ganna, Beryl B. Cummings, Ruchi Munshi, Grace Tiao, Laurent C. Francioli, Arcturus Wang, Valentin Ruano-Rubio, Eric Banks, Jessica X. Chong, Gordon Wade, Kathleen Tibbetts, Thibault Jeandet, Emma Pierce-Hoffman, Andrea Saltzman, Nicola Whiffin, Laura D. Gauthier, Ryan L. Collins, Eric Vallabh Minikel, Matthew Solomonson, Harrison Brand, Stacey Donnelly, Kaitlin E. Samocha, Qingbo Wang, Katherine Tashman, Diane Kaplan, Ben Weisburd, Christopher Vittal, Louis Bergelson, Charlotte Tolonen, Jessica Alföldi, Michael E. Talkowski, Stacey Gabriel, Kristian Cibulskis, Daniel P. Birnbaum, Steven Ferriera, Sam Novod, Kristen M. Connolly, Jeff Gentry, Christopher Llanwarne, Nikelle Petrillo, Eleanor G. Seaby, Benjamin M. Neale, Irina M. Armean, Jack A. Kosmicki, Timothy Poterba, David Roazen, Jose Soto, Molly Schleicher, Miguel Covarrubias, Konrad J. Karczewski, Daniel R. Rhodes, Monkol Lek, Moriel Singer-Berk, James S. Ware, Anne H. O’Donnell-Luria
SummaryGenetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes critical for an organism’s function will be depleted for such variants in natural populati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::546728f8451823a7b9c49a3bd20644a1
https://doi.org/10.1101/531210
https://doi.org/10.1101/531210
Autor:
Anne H. O’Donnell-Luria, Chelsea Lowther, Christine Stevens, Elise Valkanas, Matthew R. Stone, Anthony A. Philippakis, Matthew Solomonson, Mark Walker, Yongqing Huang, Jack Fu, Jerome I. Rotter, Laurent C. Francioli, Wendy S. Post, Yii-Der Ida Chen, Kristen M. Laricchia, Amit Khera, Eric S. Lander, Kent D. Taylor, Mark J. Daly, Xuefang Zhao, Lauren Margolin, Ryan L. Collins, Henry J. Lin, Konrad J. Karczewski, Laura D. Gauthier, Ted Brookings, Jessica Alföldi, Benjamin M. Neale, Harrison Brand, Caroline N. Cusick, Eric Banks, Nicholas A. Watts, Stacey Gabriel, Harold Z. Wang, Valentin Ruano-Rubio, Michael E. Talkowski, Ruchi Munshi, Stephen S. Rich, Genome Aggregation Database Production Team, Sekar Kathiresan, Christopher W. Whelan, Daniel G. MacArthur, Namrata Gupta, Chad Nusbaum, Ted Sharpe, Grace Tiao, Alexander Baumann
Publikováno v:
Nature
A Correction to this paper has been published: https://doi.org/10.1038/s41586-020-03176-6.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::574dbc1e8525c14234d8a234ec5e460b
http://europepmc.org/articles/PMC8064907
http://europepmc.org/articles/PMC8064907
Publikováno v:
American Journal of Physical Anthropology
American Journal of Physical Anthropology, Wiley, 2019, 168 (1), pp.25-44. ⟨10.1002/ajpa.23702⟩
American Journal of Physical Anthropology, Wiley, 2019, 168 (1), pp.25-44. ⟨10.1002/ajpa.23702⟩
International audience; Objectives: Adult age at death estimation continues to challenge physical anthropologists. One estimation method involves counting tooth cementum annulations (TCA). Non-destructively accessing TCA is a critical step to approac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b4b22cd1df5a7ccc5f61a7500c83ab
https://pubmed.ncbi.nlm.nih.gov/30431648
https://pubmed.ncbi.nlm.nih.gov/30431648
Autor:
Jack A. Kosmicki, Mark A. DePristo, Mark I. McCarthy, Patrick F. Sullivan, Laramie E. Duncan, Ryan Poplin, David Neil Cooper, Mitja I. Kurki, Aarno Palotie, Hong-Hee Won, Dermot P.B. McGovern, John Danesh, Jose C. Florez, Grace Tiao, Anne H. O’Donnell-Luria, Timothy Fennell, Gad Getz, Douglas M. Ruderfer, Joanne Berghout, Mark J. Daly, Monkol Lek, Daniel P. Howrigan, Stacey Gabriel, Daniel P. Birnbaum, Ami Levy Moonshine, Michael Boehnke, Ben Weisburd, Ruth McPherson, Christine Stevens, Dongmei Yu, Sekar Kathiresan, Andrew J. Hill, James G. Wilson, James S. Ware, Hugh Watkins, Benjamin M. Neale, Khalid Shakir, David Altshuler, María Teresa Tusié-Luna, Lorena Orozco, James Zou, Samuel A. Rose, Menachem Fromer, Jeremiah M. Scharf, Daniel G. MacArthur, Namrata Gupta, Pamela Sklar, Eric Vallabh Minikel, Steven A. McCarroll, Jaakko Tuomilehto, Jackie Goldstein, Ming T. Tsuang, Stacey Donnelly, Konrad J. Karczewski, Fengmei Zhao, Stephen J. Glatt, Ron Do, Nicole A. Deflaux, Adam Kiezun, Emma Pierce-Hoffman, Markku Laakso, Beryl B. Cummings, Pradeep Natarajan, Danish Saleheen, Karol Estrada, Peter D. Stenson, Manuel A. Rivas, Diego Ardissino, Kaitlin E. Samocha, Gina M. Peloso, Laura D. Gauthier, Eric Banks, Brett Thomas, Shaun Purcell, Taru Tukiainen, Valentin Ruano-Rubio, Christina M. Hultman, Jason Flannick, Roberto Elosua
Publikováno v:
Lek, M, Karczewski, K J, Minikel, E V, Samocha, K E, Posthuma, D & Exome Aggregation Consortium, U 2016, ' Analysis of protein-coding genetic variation in 60,706 humans ', Nature, vol. 536, no. 7616, pp. 285-291 . https://doi.org/10.1038/nature19057
Nature, 536(7616), 285-291. Nature Publishing Group
Nature, vol 536, iss 7616
Nature, 536(7616), 285-291. Nature Publishing Group
Nature, vol 536, iss 7616
SummaryLarge-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) sequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62da66cab8b3012619459d5ee3a67d5
https://doi.org/10.1038/nature19057
https://doi.org/10.1038/nature19057
Autor:
Zamin Iqbal, Michel Theron, Paul Vauterin, Kelda Gould, Susana Campino, Julian C. Rayner, Eleanor Drury, Daniel Mead, Upeka Samarakoon, Bronwyn MacInnis, Karen Hayton, Xin-zhuan Su, Michael T. Ferdig, Lisa C. Ranford-Cartwright, Thomas E. Wellems, Alistair Miles, Jonathan M. Mwangi, Gil McVean, Richard D. Pearson, Dominic P. Kwiatkowski, Valentin Ruano Rubio, John O'Brien
The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41f52007a8cb4f36336f0d6da2e911ff
https://doi.org/10.1101/024182
https://doi.org/10.1101/024182