Search Results - Benedict Paten
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Local read haplotagging enables accurate long-read small variant calling by Alexey Kolesnikov, Daniel Cook, Maria Nattestad, Lucas Brambrink, Brandy McNulty, John Gorzynski, Sneha Goenka, Euan A. Ashley, Miten Jain, Karen H. Miga, Benedict Paten, Pi-Chuan Chang, Andrew Carroll, Kishwar Shafin
Published in Nature Communications (2024-07-01)Get full text
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P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia* by Emmanuèle Délot, Jean Monlong, Xiao Chen, Hayk Barseghyan, Surajit Bhattacharya, Jonathan LoTempio, Brandy McNulty, Shloka Negi, Sara O'Rourke, Alexander Robertson, William Rowell, Seth Berger, Karen Miga, Benedict Paten, Jonah Cool, Eric Vilain
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Inversion polymorphism in a complete human genome assembly by David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler
Published in Genome Biology (2023-04-01)Get full text
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Bridging the rodent to human translational gap: Marmosets as model systems for the study of Alzheimer's disease by Stacey J. Sukoff Rizzo, Gregg Homanics, David J. Schaeffer, Lauren Schaeffer, Jung Eun Park, Julia Oluoch, Tingting Zhang, Annat Haber, Nicholas T. Seyfried, Benedict Paten, Anna Greenwood, Takeshi Murai, Sang Ho Choi, Hasi Huhe, Julia Kofler, Peter L. Strick, Gregory W. Carter, Afonso C. Silva
Published in Alzheimer’s & Dementia: Translational Research & Clinical Interventions (2023-07-01)Get full text
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Author Correction: Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential by Oscar Florez-Vargas, Michelle Ho, Maxwell H. Hogshead, Brenen W. Papenberg, Chia-Han Lee, Kaitlin Forsythe, Kristine Jones, Wen Luo, Kedest Teshome, Cornelis Blauwendraat, Kimberley J. Billingsley, Mikhail Kolmogorov, Melissa Meredith, Benedict Paten, Raj Chari, Chi Zhang, John S. Schneekloth, Mitchell J. Machiela, Stephen J. Chanock, Shahinaz M. Gadalla, Sharon A. Savage, Sam M. Mbulaiteye, Ludmila Prokunina-Olsson
Published in Nature Communications (2025-08-01)Get full text
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Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential by Oscar Florez-Vargas, Michelle Ho, Maxwell H. Hogshead, Brenen W. Papenberg, Chia-Han Lee, Kaitlin Forsythe, Kristine Jones, Wen Luo, Kedest Teshome, Cornelis Blauwendraat, Kimberley J. Billingsley, Mikhail Kolmogorov, Melissa Meredith, Benedict Paten, Raj Chari, Chi Zhang, John S. Schneekloth, Mitchell J. Machiela, Stephen J. Chanock, Shahinaz M. Gadalla, Sharon A. Savage, Sam M. Mbulaiteye, Ludmila Prokunina-Olsson
Published in Nature Communications (2025-02-01)Get full text
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Hydroxymethylation profile of cell-free DNA is a biomarker for early colorectal cancer by Nicolas J. Walker, Mamunur Rashid, Shirong Yu, Helen Bignell, Casper K. Lumby, Carmen M. Livi, Kate Howell, David J. Morley, Sandro Morganella, Daniel Barrell, Shabhonam Caim, Walraj Gosal, Jens Füllgrabe, Thomas J. Charlesworth, Louella Vasquez, Miika Ahdesmäki, Jordan Eizenga, Parul Prabhat, Vitali Proutski, Marie Laurie Murat-Onana, Catherine J. Greenwood, Lisa Kirkwood, Meeta Maisuria-Armer, Mengjie Li, Emma Coats, Victoria Winfield, Lachlan MacBean, Toby Stock, Alice Tomé-Fernandez, Yat Chan, Nasir Sheikh, Paula Golder, Michael Steward, Tobias W. B. Ost, Douglas Stewart, Albert Vilella, Mojtaba Noursalehi, Benedict Paten, Debora Lucarelli, Joanne Mason, Gareth Ridge, Jason Mellad, Suman Shirodkar, Shankar Balasubaramanian, Joanna D. Holbrook
Published in Scientific Reports (2022-10-01)Get full text
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Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair by Jennifer H. McDaniel, Vaidehi Patel, Nathan D. Olson, Hua-Jun He, Zhiyong He, Kenneth D. Cole, Alexander A. Gooden, Anthony Schmitt, Kristin Sikkink, Fritz J. Sedlazeck, Harsha Doddapaneni, Shalini N. Jhangiani, Donna M. Muzny, Marie-Claude Gingras, Heer Mehta, Sairam Behera, Luis F. Paulin, Alex R. Hastie, Hung-Chun Yu, Victor Weigman, Alison Rojas, Katie Kennedy, Jamie Remington, Isai Salas-González, Mitch Sudkamp, Kelly Wiseman, Bryan R. Lajoie, Shawn Levy, Miten Jain, Stuart Akeson, Giuseppe Narzisi, Zoe Steinsnyder, Catherine Reeves, Jennifer Shelton, Sarah B. Kingan, Christine Lambert, Primo Baybayan, Aaron M. Wenger, Ian J. McLaughlin, Aaron Adamson, Christopher Kingsley, Melanie Wescott, Young Kim, Benedict Paten, Jimin Park, Ivo Violich, Karen H. Miga, Joshua Gardner, Brandy McNulty, Gail L. Rosen, Rajiv McCoy, Francesco Brundu, Erfan Sayyari, Konrad Scheffler, Sean Truong, Severine Catreux, Lesley Chapman Hannah, Doron Lipson, Hila Benjamin, Nika Iremadze, Ilya Soifer, Gat Krieger, Stephen Eacker, Mary Wood, Erin Cross, Greg Husar, Stephen Gross, Michael Vernich, Mikhail Kolmogorov, Tanveer Ahmad, Ayse G. Keskus, Asher Bryant, Francoise Thibaud-Nissen, Jonathan Trow, Jacqueline Proszynski, Jeremy Wain Hirschberg, Krista Ryon, Christopher E. Mason, Mital S. Bhakta, J. Zachary Sanborn, Elizabeth M. Munding, Justin Wagner, Chunlin Xiao, Andrew S. Liss, Justin M. Zook
Published in Scientific Data (2025-08-01)Get full text
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Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair by Jennifer H. McDaniel, Vaidehi Patel, Nathan D. Olson, Hua-Jun He, Zhiyong He, Kenneth D. Cole, Alexander A. Gooden, Anthony Schmitt, Kristin Sikkink, Fritz J. Sedlazeck, Harsha Doddapaneni, Shalini N. Jhangiani, Donna M. Muzny, Marie-Claude Gingras, Heer Mehta, Sairam Behera, Luis F. Paulin, Alex R. Hastie, Hung-Chun Yu, Victor Weigman, Alison Rojas, Katie Kennedy, Jamie Remington, Isai Salas-González, Mitch Sudkamp, Kelly Wiseman, Bryan R. Lajoie, Shawn Levy, Miten Jain, Stuart Akeson, Giuseppe Narzisi, Zoe Steinsnyder, Catherine Reeves, Jennifer Shelton, Sarah B. Kingan, Christine Lambert, Primo Baybayan, Aaron M. Wenger, Ian J. McLaughlin, Aaron Adamson, Christopher Kingsley, Melanie Wescott, Young Kim, Benedict Paten, Jimin Park, Ivo Violich, Karen H. Miga, Joshua Gardner, Brandy McNulty, Gail L. Rosen, Rajiv McCoy, Francesco Brundu, Erfan Sayyari, Konrad Scheffler, Sean Truong, Severine Catreux, Lesley Chapman Hannah, Doron Lipson, Hila Benjamin, Nika Iremadze, Ilya Soifer, Gat Krieger, Stephen Eacker, Mary Wood, Erin Cross, Greg Husar, Stephen Gross, Michael Vernich, Mikhail Kolmogorov, Tanveer Ahmad, Ayse G. Keskus, Asher Bryant, Francoise Thibaud-Nissen, Jonathan Trow, Jacqueline Proszynski, Jeremy Wain Hirschberg, Krista Ryon, Christopher E. Mason, Mital S. Bhakta, J. Zachary Sanborn, Elizabeth M. Munding, Justin Wagner, Chunlin Xiao, Andrew S. Liss, Justin M. Zook
Published in Scientific Data (2025-07-01)Get full text
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Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space by Michael C. Schatz, Anthony A. Philippakis, Enis Afgan, Eric Banks, Vincent J. Carey, Robert J. Carroll, Alessandro Culotti, Kyle Ellrott, Jeremy Goecks, Robert L. Grossman, Ira M. Hall, Kasper D. Hansen, Jonathan Lawson, Jeffrey T. Leek, Anne O’Donnell Luria, Stephen Mosher, Martin Morgan, Anton Nekrutenko, Brian D. O’Connor, Kevin Osborn, Benedict Paten, Candace Patterson, Frederick J. Tan, Casey Overby Taylor, Jennifer Vessio, Levi Waldron, Ting Wang, Kristin Wuichet, Alexander Baumann, Andrew Rula, Anton Kovalsy, Clare Bernard, Derek Caetano-Anollés, Geraldine A. Van der Auwera, Justin Canas, Kaan Yuksel, Kate Herman, M. Morgan Taylor, Marianie Simeon, Michael Baumann, Qi Wang, Robert Title, Ruchi Munshi, Sushma Chaluvadi, Valerie Reeves, William Disman, Salin Thomas, Allie Hajian, Elizabeth Kiernan, Namrata Gupta, Trish Vosburg, Ludwig Geistlinger, Marcel Ramos, Sehyun Oh, Dave Rogers, Frances McDade, Mim Hastie, Nitesh Turaga, Alexander Ostrovsky, Alexandru Mahmoud, Dannon Baker, Dave Clements, Katherine E.L. Cox, Keith Suderman, Nataliya Kucher, Sergey Golitsynskiy, Samantha Zarate, Sarah J. Wheelan, Kai Kammers, Ana Stevens, Carolyn Hutter, Christopher Wellington, Elena M. Ghanaim, Ken L. Wiley, Jr., Shurjo K. Sen, Valentina Di Francesco, Deni s Yuen, Brian Walsh, Luke Sargent, Vahid Jalili, John Chilton, Lori Shepherd, B.J. Stubbs, Ash O’Farrell, Benton A. Vizzier, Jr., Charles Overbeck, Charles Reid, David Charles Steinberg, Elizabeth A. Sheets, Julian Lucas, Lon Blauvelt, Louise Cabansay, Noah Warren, Brian Hannafious, Tim Harris, Radhika Reddy, Eric Torstenson, M. Katie Banasiewicz, Haley J. Abel, Jason Walker
Published in Cell Genomics (2022-01-01)Get full text
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