Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Anthony A. Philippakis"'
Autor:
James P. Pirruccello, Paolo Di Achille, Seung Hoan Choi, Joel T. Rämö, Shaan Khurshid, Mahan Nekoui, Sean J. Jurgens, Victor Nauffal, Shinwan Kany, FinnGen, Kenney Ng, Samuel F. Friedman, Puneet Batra, Kathryn L. Lunetta, Aarno Palotie, Anthony A. Philippakis, Jennifer E. Ho, Steven A. Lubitz, Patrick T. Ellinor
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Increased left atrial volume and decreased left atrial function have long been associated with atrial fibrillation. The availability of large-scale cardiac magnetic resonance imaging data paired with genetic data provides a unique opportunit
Externí odkaz:
https://doaj.org/article/28dcb362d1d747399f72a9d9686b4b32
Autor:
Nicole Deflaux, Margaret Sunitha Selvaraj, Henry Robert Condon, Kelsey Mayo, Sara Haidermota, Melissa A. Basford, Chris Lunt, Anthony A. Philippakis, Dan M. Roden, Joshua C. Denny, Anjene Musick, Rory Collins, Naomi Allen, Mark Effingham, David Glazer, Pradeep Natarajan, Alexander G. Bick
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-10 (2023)
Abstract Recently, large scale genomic projects such as All of Us and the UK Biobank have introduced a new research paradigm where data are stored centrally in cloud-based Trusted Research Environments (TREs). To characterize the advantages and drawb
Externí odkaz:
https://doaj.org/article/5b19d5111ef64f9c86ba31efe3a52fc4
Autor:
Adityanarayanan Radhakrishnan, Sam F. Friedman, Shaan Khurshid, Kenney Ng, Puneet Batra, Steven A. Lubitz, Anthony A. Philippakis, Caroline Uhler
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract A fundamental challenge in diagnostics is integrating multiple modalities to develop a joint characterization of physiological state. Using the heart as a model system, we develop a cross-modal autoencoder framework for integrating distinct
Externí odkaz:
https://doaj.org/article/b40d79696a384ecd99367367a11a9949
Autor:
Shaan Khurshid, Julieta Lazarte, James P. Pirruccello, Lu-Chen Weng, Seung Hoan Choi, Amelia W. Hall, Xin Wang, Samuel F. Friedman, Victor Nauffal, Kiran J. Biddinger, Krishna G. Aragam, Puneet Batra, Jennifer E. Ho, Anthony A. Philippakis, Patrick T. Ellinor, Steven A. Lubitz
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
A genome-wide association study of cardiac magnetic resonance-derived left ventricular mass index including 43,000 UK Biobank participants reveals 12 associations (11 novel), implicating genes involved in cardiac contractility and cardiomyopathy.
Externí odkaz:
https://doaj.org/article/1a8e275a72c04f6d9ede2ed763e2d9bc
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-4 (2022)
Polygenic scores can identify individuals with high disease risk based on inborn DNA variation. We explore their potential to enrich clinical trials by identifying individuals based on higher risk of disease (‘prognostic enrichment’), or increase
Externí odkaz:
https://doaj.org/article/d2e299e461da4d2d98501322a2cf64c4
Autor:
Shaan Khurshid, Christopher Reeder, Lia X. Harrington, Pulkit Singh, Gopal Sarma, Samuel F. Friedman, Paolo Di Achille, Nathaniel Diamant, Jonathan W. Cunningham, Ashby C. Turner, Emily S. Lau, Julian S. Haimovich, Mostafa A. Al-Alusi, Xin Wang, Marcus D. R. Klarqvist, Jeffrey M. Ashburner, Christian Diedrich, Mercedeh Ghadessi, Johanna Mielke, Hanna M. Eilken, Alice McElhinney, Andrea Derix, Steven J. Atlas, Patrick T. Ellinor, Anthony A. Philippakis, Christopher D. Anderson, Jennifer E. Ho, Puneet Batra, Steven A. Lubitz
Publikováno v:
npj Digital Medicine, Vol 5, Iss 1, Pp 1-14 (2022)
Abstract Electronic health record (EHR) datasets are statistically powerful but are subject to ascertainment bias and missingness. Using the Mass General Brigham multi-institutional EHR, we approximated a community-based cohort by sampling patients r
Externí odkaz:
https://doaj.org/article/cee0e785728d44acb66d820bf455a8f1
Autor:
Shaan Khurshid, MD, Samuel Freesun Friedman, PhD, James P. Pirruccello, MD, Paolo Di Achille, PhD, Nathaniel Diamant, BS, Christopher D. Anderson, MD, MMSc, Patrick T. Ellinor, MD, PhD, Puneet Batra, PhD, Jennifer E. Ho, MD, Anthony A. Philippakis, MD, PhD, Steven A. Lubitz, MD, MPH
Publikováno v:
Cardiovascular Digital Health Journal, Vol 2, Iss 2, Pp 109-117 (2021)
Background: Cardiac magnetic resonance (CMR) is the gold standard for left ventricular hypertrophy (LVH) diagnosis. CMR-derived LV mass can be estimated using proprietary algorithms (eg, InlineVF), but their accuracy and availability may be limited.
Externí odkaz:
https://doaj.org/article/e162652169234f2e8c8a1c9cf568888c
Autor:
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
Publikováno v:
Cell Genomics, Vol 2, Iss 1, Pp 100085- (2022)
Summary: The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL; https://anvilproject.org) was developed to address a widespread community need for a unified computing environment for genomics data storage, managemen
Externí odkaz:
https://doaj.org/article/95ac1623e901491c821d128f529da364
Autor:
Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100029- (2021)
Summary: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cos
Externí odkaz:
https://doaj.org/article/8843ca96b8394774b7bfa2e49aa0584a
Autor:
Jonathan Lawson, Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood, Adrian Thorogood, Pinar Alper, Sarion R. Bowers, Rebecca R. Boyles, Anthony J. Brookes, Matthew Brush, Tony Burdett, Hayley Clissold, Stacey Donnelly, Stephanie O.M. Dyke, Mallory A. Freeberg, Melissa A. Haendel, Chihiro Hata, Petr Holub, Francis Jeanson, Aina Jene, Minae Kawashima, Shuichi Kawashima, Melissa Konopko, Irene Kyomugisha, Haoyuan Li, Mikael Linden, Laura Lyman Rodriguez, Mizuki Morita, Nicola Mulder, Jean Muller, Satoshi Nagaie, Jamal Nasir, Soichi Ogishima, Vivian Ota Wang, Laura D. Paglione, Ravi N. Pandya, Helen Parkinson, Anthony A. Philippakis, Fabian Prasser, Jordi Rambla, Kathy Reinold, Gregory A. Rushton, Andrea Saltzman, Gary Saunders, Heidi J. Sofia, John D. Spalding, Morris A. Swertz, Ilia Tulchinsky, Esther J. van Enckevort, Susheel Varma, Craig Voisin, Natsuko Yamamoto, Chisato Yamasaki, Lyndon Zass, Jaime M. Guidry Auvil, Tommi H. Nyrönen, Mélanie Courtot
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100028- (2021)
Summary: Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken when they are proc
Externí odkaz:
https://doaj.org/article/f8726db3840b428bad60870042b49eab