Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Nicole A. Deflaux"'
Autor:
Dan M. Roden, Cheryl R. Clark, Hoda Anton-Culver, Melissa A. Basford, Parinda Khatri, Mona N. Fouad, Stephen O. Sodeke, Paul A. Harris, Joshua C. Denny, Consuelo H. Wilkins, Robert M. Cronin, Mine S. Cicek, Scott J. Hebbring, Jun Qian, John Wilbanks, Karthik N. Muthuraman, David Goldstein, Lucila Ohno-Machado, Kelsey R. Mayo, Lina Sulieman, Roxana Loperena, Nicole A. Deflaux, Kelly Gebo, Abel N. Kho, Philip Greenland, Eric Boerwinkle, Anthony Philippakis, George Hripcsak, Brian K. Ahmedani, Stephanie A. Devaney, Elizabeth W. Karlson, David J. Schlueter, Maria Argos, Justin Hentges, Elizabeth Cohn, Karthik Natarajan, Alese E. Halvorson, Christopher J. O'Donnell, Bruce R. Korf, David Glazer, Jordan W. Smoller, Francis Ratsimbazafy, Hua Xu, Robert J. Carroll, Christopher Lunt, Sheri D. Schully, Andrea H. Ramirez
ImportanceThe All of Us Research Program hypothesizes that accruing one million or more diverse participants engaged in a longitudinal research cohort will advance precision medicine and ultimately improve human health. Launched nationally in 2018, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ecfdde0152096e4235397cc9c277b53
https://doi.org/10.1101/2020.05.29.20116905
https://doi.org/10.1101/2020.05.29.20116905
Autor:
Matthew Bookman, Suzanne M. Paquette, Varsha Dhankani, Michael Miller, Kalle Leinonen, Nicole A. Deflaux, Mark Backus, Todd Pihl, Madelyn Reyes, Sheila Reynolds, Joseph Slagel, Jonathan Bingham, David L Gibbs, David Pot, William J.R. Longabaugh, Abigail Hahn, Zack Rodebaugh, Ilya Shmulevich, Phyliss Lee
Publikováno v:
Cancer Research. 77:e7-e10
The ISB Cancer Genomics Cloud (ISB-CGC) is one of three pilot projects funded by the National Cancer Institute to explore new approaches to computing on large cancer datasets in a cloud environment. With a focus on Data as a Service, the ISB-CGC offe
Autor:
Gregory McInnes, Jonathan Bingham, Cuiping Pan, Philip S. Tsao, Michael Snyder, Nicole A. Deflaux, Somalee Datta
Publikováno v:
Bioinformatics. 33:3709-3715
Motivation Large scale genomic sequencing is now widely used to decipher questions in diverse realms such as biological function, human diseases, evolution, ecosystems, and agriculture. With the quantity and diversity these data harbor, a robust and
Autor:
Christian R. Marshall, Annette Estes, John Wei, Janet A. Buchanan, Jennifer L. Howe, Christina Chrysler, Weili Li, Tara Paton, Fiona Tsoi, Zhuozhi Wang, Brendan J. Frey, Eric Deneault, Edwin H. Cook, William Van Etten, Stephen W. Scherer, Mohammed Uddin, Mayada Elsabbagh, Emily Kirby, Sylvia Lamoureux, Cheryl Cytrynbaum, Bhooma Thiruvahindrapuram, Mathew T. Pletcher, Lonnie Zwaigenbaum, Wilson W L Sung, Angie Fedele, Daniele Merico, Bartha Maria Knoppers, Ryan K. C. Yuen, Marc Woodbury-Smith, Worrawat Engchuan, Vicki Seifer, Isabel M. Smith, Barbara Kellam, Bonnie Mackinnon Modi, Stephanie Koyanagi, Bridget A. Fernandez, James T. Robinson, Karen Ho, Edward J Higginbotham, Joe Whitney, Krissy A.R. Doyle-Thomas, Beth A. Malow, Susan Walker, Jeremy R. Parr, Louise Gallagher, Rob Nicolson, Jonathan Bingham, Thomas Nalpathamkalam, Lia D’Abate, Sanne Jilderda, Matt Bookman, Jessica Brian, Sarah J. Spence, Ann Thompson, Jonathan Leef, Rosanna Weksberg, Jacob A. S. Vorstman, Tal Savion-Lemieux, Anne Marie Tassé, Peter Szatmari, Alana Iaboni, Xudong Liu, Evdokia Anagnostou, Jeffrey R. MacDonald, Ny Hoang, Mehdi Zarrei, Lizhen Xu, Simon N. Twigger, Robert H. Ring, Stephen R. Dager, Melissa T. Carter, Irene Drmic, Michael J. Szego, Wendy Roberts, Lili Senman, Giovanna Pellecchia, Rohan V. Patel, Sergio L. Pereira, Joachim Hallmayer, David Glazer, Lisa J. Strug, Ada J.S. Chan, Nicole A. Deflaux
Publikováno v:
Nature Neuroscience, 20(4), 602. Nature Publishing Group
Paediatrics Publications
Paediatrics Publications
We are performing whole genome sequencing (WGS) of families with Autism Spectrum Disorder (ASD) to build a resource, named MSSNG, to enable the sub-categorization of phenotypes and underlying genetic factors involved. Here, we report WGS of 5,205 sam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63f8e721122ea3d6acab7f7535d5d8f
https://europepmc.org/articles/PMC5501701/
https://europepmc.org/articles/PMC5501701/
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:
Somalee Datta, Jonathan Bingham, Nicole A. Deflaux, Philip S. Tsao, Michael Snyder, Cuiping Pan, Gregory McInnes
Large scale genomic sequencing is now widely used to decipher questions in diverse realms such as biological function, human diseases, evolution, ecosystems, and agriculture. With the quantity and diversity these data harbor, a robust and scalable da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ca7eb68bec93cacaf4ac41775c6e9a
Autor:
Michael R. Kellen, Oscar M. Rueda, Christina Curtis, Brigham H. Mecham, Adam A. Margolin, Erhan Bilal, Hege G. Russnes, Craig Citro, Veronica O. Vang, Lara M. Mangravite, Joseph L. Hellerstein, Tyler Pirtle, Stephen H. Friend, Xavier Schildwachter, Gustavo Stolovitzky, Nicole A. Deflaux, Daehoon Park, Lars Ottestad, Anne Lise Børresen-Dale, Carlos Caldas, Lamia Youseff, Matthew D. Furia, Samuel Aparicio, Ben Sauerwine, Thea Norman, Hans Kristian Moen Vollan, Bruce Hoff, Justin Guinney, Erich Huang, Vessela N. Kristensen
Publikováno v:
Science Translational Medicine. 5
Although molecular prognostics in breast cancer are among the most successful examples of translating genomic analysis to clinical applications, optimal approaches to breast cancer clinical risk prediction remain controversial. The Sage Bionetworks