Mapping copy number variation by population-scale genome sequencing by Handsaker, Robert E.

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PCDH7 interacts with GluN1 and regulates dendritic spine morphology and synaptic function by Wang, Yuanyuan, Kerrisk Campbell, Meghan, Tom, Irene, Foreman, Oded, Hanson, Jesse E., Sheng, Morgan Hwa-Tze

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Mechanisms of intron gain and loss in Cryptococcus by Neafsey, Daniel E., Galagan, James E., Sharpton, Thomas J., Taylor, John W.

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Alternative Functions of Core Cell Cycle Regulators in Neuronal Migration, Neuronal Maturation, and Synaptic Plasticity by Frank, Christopher Lee, Tsai, Li-Huei

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Hsp90 and Environmental Stress Transform the Adaptive Value of Natural Genetic Variation by Jarosz, Daniel F., Lindquist, Susan

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On the means of bioproduction : bioinformatics and how to make knowledge in a high-throughput genomics laboratory by Stevens, Hallam

“…This paper draws on an ethnographic account of a high-throughput genomics laboratory (the Eli and Edythe L. Broad Institute, Cambridge MA) to show how the means through which biological data is produced exerts a determinative effect on the kind of knowledge that is generated by the laboratory. …”
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A core matrisome gene signature predicts cancer outcome by Yuzhalin, A, Urbonas, T, Silva, M, Muschel, R, Gordon-Weeks, A

“…Geneset enrichment analysis was performed using the Broad Institute desktop application. Survival analysis was performed using KM plotter. …”

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats by Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

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HLA class-I-peptide stability mediates CD8+ T cell immunodominance hierarchies and facilitates HLA-associated immune control of HIV by Clarety Kaseke, Ryan J. Park, Nishant K. Singh, Dylan Koundakjian, Arman Bashirova, Wilfredo F. Garcia Beltran, Overbeck C. Takou Mbah, Jiaqi Ma, Fernando Senjobe, Jonathan M. Urbach, Anusha Nathan, Elizabeth J. Rossin, Rhoda Tano-Menka, Ashok Khatri, Alicja Piechocka-Trocha, Michael T. Waring, Michael E. Birnbaum, Brian M. Baker, Mary Carrington, Bruce D. Walker, Gaurav D. Gaiha

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Genomic Variation across a Clinical Cryptococcus Population Linked to Disease Outcome by Poppy Sephton-Clark, Jennifer L. Tenor, Dena L. Toffaletti, Nancy Meyers, Charles Giamberardino, Síle F. Molloy, Julia R. Palmucci, Adrienne Chan, Tarsizio Chikaonda, Robert Heyderman, Mina Hosseinipour, Newton Kalata, Cecilia Kanyama, Christopher Kukacha, Duncan Lupiya, Henry C. Mwandumba, Thomas Harrison, Tihana Bicanic, John R. Perfect, Christina A. Cuomo

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Comparative Genomics of Recent Shiga Toxin-Producing <named-content content-type="genus-species">Escherichia coli</named-content> O104:H4: Short-Term Evolution of an Emerging Patho... by Yonatan H. Grad, Paul Godfrey, Gustavo C. Cerquiera, Patricia Mariani-Kurkdjian, Malika Gouali, Edouard Bingen, Terrence P. Shea, Brian J. Haas, Allison Griggs, Sarah Young, Qiandong Zeng, Marc Lipsitch, Matthew K. Waldor, François-Xavier Weill, Jennifer R. Wortman, William P. Hanage

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T-REX17 is a transiently expressed non-coding RNA essential for human endoderm formation by Alexandro Landshammer, Adriano Bolondi, Helene Kretzmer, Christian Much, René Buschow, Alina Rose, Hua-Jun Wu, Sebastian D Mackowiak, Bjoern Braendl, Pay Giesselmann, Rosaria Tornisiello, Krishna Mohan Parsi, Jack Huey, Thorsten Mielke, David Meierhofer, René Maehr, Denes Hnisz, Franziska Michor, John L Rinn, Alexander Meissner

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Heart rate response and recovery during exercise predict future delirium risk—A prospective cohort study in middle- to older-aged adults by Lei Gao, Arlen Gaba, Peng Li, Richa Saxena, Frank A.J.L. Scheer, Oluwaseun Akeju, Martin K. Rutter, Kun Hu

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Precision Population Medicine in Primary Care: The Sanford Chip Experience by Kurt D. Christensen, Kurt D. Christensen, Kurt D. Christensen, Megan Bell, Carrie L. B. Zawatsky, Carrie L. B. Zawatsky, Lauren N. Galbraith, Robert C. Green, Robert C. Green, Robert C. Green, Robert C. Green, Allison M. Hutchinson, Leila Jamal, Leila Jamal, Jessica L. LeBlanc, Jennifer R. Leonhard, Michelle Moore, Lisa Mullineaux, Natasha Petry, Natasha Petry, Dylan M. Platt, Sherin Shaaban, Sherin Shaaban, April Schultz, April Schultz, Bethany D. Tucker, Joel Van Heukelom, Joel Van Heukelom, Elizabeth Wheeler, Emilie S. Zoltick, Catherine Hajek, Catherine Hajek, on behalf of the Imagenetics Metrics Team, Baye Jordan, Bell Megan, Deberg Kristen, Forred Benjamin, Free Colette, Hajek Catherine, Heukelom Joel Van, Hopp Ashley, Hutchinson Allison, Lees Ryne, Leonhard Jennifer, Massmann Amanda, Moore Michelle, Mroch Amelia, Petry Natasha, Platt Dylan, Royer Erin, Schultz April, Sincan Murat, Tucker Bethany, Wheeler Elizabeth, Christensen Kurt, Galbraith Lauren, LeBlanc Jessica, Walsh Ryan, Zoltick Emilie, Green Robert, Preys Charlene, Zawatsky Carrie, Mullineaux Lisa, Jamal Leila

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Lysine pathway metabolites and the risk of type 2 diabetes and cardiovascular disease in the PREDIMED study: results from two case-cohort studies by Cristina Razquin, Miguel Ruiz-Canela, Clary B. Clish, Jun Li, Estefania Toledo, Courtney Dennis, Liming Liang, Albert Salas-Huetos, Kerry A. Pierce, Marta Guasch-Ferré, Dolores Corella, Emilio Ros, Ramon Estruch, Enrique Gómez-Gracia, Montse Fitó, Jose Lapetra, Dora Romaguera, Angel Alonso-Gómez, Lluis Serra-Majem, Jordi Salas-Salvadó, Frank B. Hu, Miguel A. Martínez-González

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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

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Reciprocal mutations of lung-tropic AAV capsids lead to improved transduction properties by Ashley L. Cooney, Ashley L. Cooney, Ashley L. Cooney, Christian M. Brommel, Christian M. Brommel, Christian M. Brommel, Soumba Traore, Soumba Traore, Soumba Traore, Gregory A. Newby, Gregory A. Newby, Gregory A. Newby, David R. Liu, David R. Liu, David R. Liu, Paul B. McCray, Paul B. McCray, Paul B. McCray, Patrick L. Sinn, Patrick L. Sinn, Patrick L. Sinn

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A Systematic Review and Recommendations Around Frameworks for Evaluating Scientific Validity in Nutritional Genomics by Justine Keathley, Justine Keathley, Justine Keathley, Justine Keathley, Justine Keathley, Justine Keathley, Véronique Garneau, Véronique Garneau, Daniela Zavala-Mora, Robyn R. Heister, Ellie Gauthier, Ellie Gauthier, Josiane Morin-Bernier, Josiane Morin-Bernier, Robert Green, Robert Green, Robert Green, Robert Green, Marie-Claude Vohl, Marie-Claude Vohl

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Parallel derivation of isogenic human primed and naive induced pluripotent stem cells by Stéphanie Kilens, Dimitri Meistermann, Diego Moreno, Caroline Chariau, Anne Gaignerie, Arnaud Reignier, Yohann Lelièvre, Miguel Casanova, Céline Vallot, Steven Nedellec, Léa Flippe, Julie Firmin, Juan Song, Eric Charpentier, Jenna Lammers, Audrey Donnart, Nadège Marec, Wallid Deb, Audrey Bihouée, Cédric Le Caignec, Claire Pecqueur, Richard Redon, Paul Barrière, Jérémie Bourdon, Vincent Pasque, Magali Soumillon, Tarjei S. Mikkelsen, Claire Rougeulle, Thomas Fréour, Laurent David, The Milieu Intérieur Consortium

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X Chromosome Dosage Influences DNA Methylation Dynamics during Reprogramming to Mouse iPSCs by Vincent Pasque, Rahul Karnik, Constantinos Chronis, Paula Petrella, Justin Langerman, Giancarlo Bonora, Juan Song, Lotte Vanheer, Anupama Sadhu Dimashkie, Alexander Meissner, Kathrin Plath

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