Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Alejandro Metke-Jimenez"'
Publikováno v:
Journal of Biomedical Semantics, Vol 13, Iss 1, Pp 1-19 (2022)
Abstract Background Health data analytics is an area that is facing rapid change due to the acceleration of digitization of the health sector, and the changing landscape of health data and clinical terminology standards. Our research has identified a
Externí odkaz:
https://doaj.org/article/36fb27222a77418e8223908717bb43d3
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
Publikováno v:
Journal of Biomedical Semantics, Vol 9, Iss 1, Pp 1-10 (2018)
Abstract Background Even though several high-quality clinical terminologies, such as SNOMED CT and LOINC, are readily available, uptake in clinical systems has been slow and many continue to capture information in plain text or using custom terminolo
Externí odkaz:
https://doaj.org/article/4c084207247a4ecaaa77762a973ed039
Publikováno v:
Journal of Biomedical Semantics, Vol 8, Iss 1, Pp 1-14 (2017)
Abstract Background Observational clinical studies play a pivotal role in advancing medical knowledge and patient healthcare. To lessen the prohibitive costs of conducting these studies and support evidence-based medicine, results emanating from thes
Externí odkaz:
https://doaj.org/article/9b1fd50cfa1a49b38b30e889b194539d
Autor:
Alan J. Robertson, Natalie B. Tan, Amanda B. Spurdle, Alejandro Metke-Jimenez, Clair Sullivan, Nicola Waddell
Publikováno v:
Genetics in Medicine. 24:798-810
Re-analyzing genomic information from a patient suspected of having an underlying genetic condition can improve the diagnostic yield of sequencing tests, potentially providing significant benefits to the patient and to the health care system. Althoug
Publikováno v:
AMIA Annu Symp Proc
Finding concepts in large clinical ontologies can be challenging when queries use different vocabularies. A search algorithm that overcomes this problem is useful in applications such as concept normalisation and ontology matching, where concepts can
Autor:
Leslie Matalonga, Julius O.B. Jacobsen, Claus Weiland, Robin Steinhaus, Gareth Baynam, Michael Baudis, Nicole Vasilevsky, Mélanie Courtot, Damian Smedley, Kent Lloyd, Nomi L. Harris, Núria Queralt-Rosinach, Jacques S. Beckmann, Aly Khalifa, Jagadish Chandrabose Sundaramurthi, Nikolas Pontikos, Anastasios Siapos, Tudor Groza, Peter Krawitz, Daniel Danis, Sylvia Thun, Sebastian Koehler, Tiffany J. Callahan, Christopher J. Mungall, Lindsay Smith, Sergi Beltran, Monica C. Munoz-Torres, Robert R. Freimuth, Melissa Haendel, Marco Roos, Davide Piscia, Ada Hamosh, Christopher G. Chute, Anastasios Papakonstantinou, Alejandro Metke-Jimenez, Heikki Lehvaeslaiho, Jeremy L. Warner, Julie A. McMurry, Alex H. Wagner, Michael A. Gargano, Emilia M. Swietlik, Brian J Laraway, Paul N. Schofield, Peter N. Robinson, Rajaram Kaliyaperumal, Olivier Elemento, Soichi Ogishima
Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard for exchanging phenotypic data, and this has impeded the sharing of phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd4b2185624a9445f4ed13fb97ea1593
https://doi.org/10.1101/2021.11.27.21266944
https://doi.org/10.1101/2021.11.27.21266944
Autor:
Blanca Gallego, Louisa Jorm, Manoj Saxena, Oisin Fitzgerald, Lachlan Rudd, Alejandro Metke-Jimenez, Oscar Perez-Concha
Publikováno v:
Journal of the American Medical Informatics Association : JAMIA
Objective Glycemic control is an important component of critical care. We present a data-driven method for predicting intensive care unit (ICU) patient response to glycemic control protocols while accounting for patient heterogeneity and variations i
Autor:
Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson
Background: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics. Method: An audit of records
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b9def0bf9b0f6a440bf2919f660ec2
https://hdl.handle.net/11541.2/147358
https://hdl.handle.net/11541.2/147358
Autor:
Amber L. Johns, Ian Fore, Juha Törnroos, Melissa Haendel, Bimal Chaudhari, J. Patrick Woolley, Brian Walsh, Susan Fairley, Jonathan A. Tedds, Jessica Vamathevan, Martin Kuba, Clara L. Gaff, Ksenia Zaytseva, Sabine Oesterle, David Bujold, Sarion R. Bowers, Alexander Kanitz, Jordi Rambla, Anthony J. Brookes, Alice L. Mann, Gregory A. Rushton, Paul Flicek, Seik-Soon Khor, Khalid A. Fakhro, Aina Jene, Miro Cupak, Moran N. Cabili, Emilio Palumbo, Nathan C. Sheffield, Vivian Ota Wang, James K. Bonfield, Julius O.B. Jacobsen, Michael M. Hoffman, Neerjah Skantharajah, Ewan Birney, Rasko Leinonen, Anna Middleton, Anneke M. Lucassen, Ania Niewielska, Angela Page, Jeffrey Niu, Alastair A. Thomson, Elena M. Ghanaim, Albert V. Smith, Megan Doerr, Lena I. Dolman, Arcadi Navarro, Ada Hamosh, Sean Upchurch, Michael Baudis, Jerome Kelleher, Marc Fiume, Mikael Linden, Roderic Guigó, Orion J. Buske, Tristan H. Nelson, Kyle Ellrott, Lauren A. Fromont, Alex H. Wagner, Alexander Senf, Tommi Nyrönen, Michele Mattioni, David Haussler, Alejandro Metke-Jimenez, Francis Jeanson, Mélanie Courtot, David Hansen, Matthew H. Brush, Helen Parkinson, Peter Goodhand, Lindsay Smith, Jonathan Fuerth, Stephanie Li, Tim Beck, Debyani Chakravarty, Kristina Kekesi-Lafrance, Giselle Kerry, James A. Eddy, Torsten Schwede, Jaime M. Guidry Auvil, Xianglin Liu, Soichi Ogishima, Fiona Cunningham, Oliver Hofmann, Dean Hartley, Amy Nisselle, Katsushi Tokunaga, Alfonso Valencia, Hidewaki Nakagawa, Kurt W. Rodarmer, Lawrence J. Babb, Heidi J. Sofia, David Glazer, Angel Pizarro, Ammar Husami, Gil Alterovitz, Serena Scollen, J. Michael Cherry, Helen V. Firth, Zornitza Stark, Monica C. Munoz-Torres, Daniel L Cameron, Robert R. Freimuth, Manuel Rueda, Stephanie O.M. Dyke, Makoto Suematsu, Christina K. Yung, Rosalyn S. Ryan, Chisato Yamasaki, Michael S. Fitzsimons, Amanda B. Spurdle, Renee A. Rider, Karen Eilbeck, Ashley E. Hobb, Roman Valls Guimera, Calvin W. L. Ho, Robert L. Davies, Maxmillian P. Barkley, Malachi Griffith, Rishi Nag, Javier Lopez, Jacob Shujui Hsu, Isuru Udara Liyanage, Petr Holub, Dylan Spalding, Reece K. Hart, Barbara J. Wold, Fruzsina Molnár-Gábor, Sarah E. Hunt, Augusto Rendon, Danielle Denisko, Dipayan Gupta, Obi L. Griffith, Robert J. Carroll, Patrick Tan, Craig Voisin, Saumya Shekhar Jamuar, Mallory A. Freeberg, Michael Brudno, Andreas Prlic, Kenjiro Kosaki, Shu Hui Chen, Edward S. Dove, Tony Burdett, Anthony A. Philippakis, Richard Milne, Bartha Maria Knoppers, Kathryn North, David Torrents, Eva C. Winkler, Marc S. Williams, Melissa A. Konopko, Rachele M. Hendricks-Sturrup, Brian O'Connor, Grant M. Wood, Robert L. Grossman, Timothy L. Tickle, Michael F. Lin, Laura Lyman Rodriguez, Weiniu Gan, Laura A.D. Paglione, Justina Chung, Thomas M. Keane, Susan E. Wallace, Lyndon J. Zass, Heidi L. Rehm, Kazuto Kato, Alexander Bernier, Nicola Mulder, Jamal Nasir, Yann Joly, Junjun Zhang, Adrian Thorogood, Lincoln Stein, Guillaume Bourque, L. Jonathan Dursi, Tudor Groza, Jean-Pierre Hubaux, Coby Viner, Helen Schuilenburg, Sergi Beltran, Michael J.S. Beauvais, Hayley L. Clissold, Elizabeth L. Janes, Jacques S. Beckmann, Michael Lukowski, Melissa S. Cline, John F. Marshall, Alan F. Rubin, Tiffany Boughtwood, Peter N. Robinson, Robert C. Green, Robert Cook-Deegan, Esmeralda Casas-Silva, Jeremy Adams, Steven J.M. Jones, Gary I. Saunders, Danya F. Vears, Jonathan Lawson, Andrew D. Yates, David Bernick, Susheel Varma
Publikováno v:
Cell Genonics
Rehm, H L, Page, A J H, Smith, L, Adams, J B, Alterovitz, G, Babb, L J, Barkley, M P, Baudis, M, Beauvais, M J S, Beck, T, Beckmann, J S, Beltran, S, Bernick, D, Bernier, A, Bonfield, J K, Boughtwood, T F, Bourque, G, Bowers, S R, Brookes, A J, Brudno, M, Brush, M H, Bujold, D, Burdett, T, Buske, O J, Cabili, M N, Cameron, D L, Carroll, R J, Casas-Silva, E, Chakravarty, D, Chaudhari, B P, Chen, S H, Cherry, J M, Chung, J, Cline, M, Clissold, H L, Cook-Deegan, R M, Courtot, M, Cunningham, F, Cupak, M, Davies, R M, Denisko, D, Doerr, M J, Dolman, L I, Dove, E S, Dursi, L J, Dyke, S O M, Eddy, J A, Eilbeck, K, Ellrott, K P, Fairley, S, Fakhro, K A, Firth, H V, Fitzsimons, M S, Fiume, M, Flicek, P, Fore, I M, Freeberg, M A, Freimuth, R R, Fromont, L A, Fuerth, J, Gaff, C L, Gan, W, Ghanaim, E M, Glazer, D, Green, R C, Griffith, M, Griffith, O L, Grossman, R L, Groza, T, Guidry Auvil, J M, Guigó, R, Gupta, D, Haendel, M A, Hamosh, A, Hansen, D P, Hart, R K, Hartley, D M, Haussler, D, Hendricks-Sturrup, R M, Ho, C W L, Hobb, A E, Hoffmann, M M, Hoffman, O M, Holub, P, Hsu, J S, Hubaux, J-P, Hunt, S E, Husami, A, Jacobsen, J O, Jamuar, S S, Janes, E L, Jeanson, F, Jené, A, Johns, A L, Joly, Y, Jones, S J M, Kanitz, A, Kato, K, Keane, T M, Kekesi-Lafrance, K, Kelleher, J, Kerry, G, Khor, S-S, Knoppers, B M, Konopko, M A, Kosaki, K, Kuba, M, Lawson, J, Leinonen, R, Li, S, Lin, M F, Linden, M, Liu, X, Liyanage, I U, Lopez, J, Lucassen, A M, Lukowski, M, Mann, A L, Marshall, J, Mattioni, M, Metke-Jimenez, A, Middleton, A, Milne, R J, Molnár-Gábor, F, Mulder, N, Munoz-Torres, M C, Nag, R, Nakagawa, H, Nasir, J, Navarro, A, Nelson, T H, Niewielska, A, Nisselle, A, Niu, J, Nyrönen, T H, O'Connor, B D, Oesterle, S, Ogishima, S, Wang, V O, Paglione, L A D, Palumbo, E, Parkinson, H E, Philippakis, A A, Pizarro, A D, Prlic, A, Rambla, J, Rendon, A, Rider, R A, Robinson, P N, Rodarmer, K W, Rodriguez, L L, Rubin, A F, Rueda, M, Rushton, G A, Ryan, R S, Saunders, G I, Schuilenburg, H, Schwede, T, Scollen, S, Senf, A, Sheffield, N C, Skantharajah, N, Smith, A V, Sofia, H J, Spalding, D, Spurdle, A B, Stark, Z, Stein, L D, Suematsu, M, Tan, P, Tedds, J A, Thomson, A A, Thorogood, A, Tickle, T L, Tokunaga, K, Törnroos, J, Torrents, D, Upchurch, S, Valencia, A, Guimera, R V, Varmathevan, J, Varma, S, Vears, D F, Viner, C, Voisin, C, Wagner, A H, Wallace, S E, Walsh, B P, Williams, M S, Winkler, E C, Wold, B J, Wood, G M, Woolley, J P, Yamasaki, C, Yates, A D, Yung, C K, Zass, L J, Zaytseva, K, Zhang, J, Goodhand, P, North, K & Birney, E 2021, ' GA4GH : International policies and standards for data sharing across genomic research and healthcare ', Cell Genomics, vol. 1, no. 2, 100029 . https://doi.org/10.1016/j.xgen.2021.100029
Cell genomics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Cell genomics, vol. 1, no. 2, pp. 100029
Rehm, H L, Page, A J H, Smith, L, Adams, J B, Alterovitz, G, Babb, L J, Barkley, M P, Baudis, M, Beauvais, M J S, Beck, T, Beckmann, J S, Beltran, S, Bernick, D, Bernier, A, Bonfield, J K, Boughtwood, T F, Bourque, G, Bowers, S R, Brookes, A J, Brudno, M, Brush, M H, Bujold, D, Burdett, T, Buske, O J, Cabili, M N, Cameron, D L, Carroll, R J, Casas-Silva, E, Chakravarty, D, Chaudhari, B P, Chen, S H, Cherry, J M, Chung, J, Cline, M, Clissold, H L, Cook-Deegan, R M, Courtot, M, Cunningham, F, Cupak, M, Davies, R M, Denisko, D, Doerr, M J, Dolman, L I, Dove, E S, Dursi, L J, Dyke, S O M, Eddy, J A, Eilbeck, K, Ellrott, K P, Fairley, S, Fakhro, K A, Firth, H V, Fitzsimons, M S, Fiume, M, Flicek, P, Fore, I M, Freeberg, M A, Freimuth, R R, Fromont, L A, Fuerth, J, Gaff, C L, Gan, W, Ghanaim, E M, Glazer, D, Green, R C, Griffith, M, Griffith, O L, Grossman, R L, Groza, T, Guidry Auvil, J M, Guigó, R, Gupta, D, Haendel, M A, Hamosh, A, Hansen, D P, Hart, R K, Hartley, D M, Haussler, D, Hendricks-Sturrup, R M, Ho, C W L, Hobb, A E, Hoffmann, M M, Hoffman, O M, Holub, P, Hsu, J S, Hubaux, J-P, Hunt, S E, Husami, A, Jacobsen, J O, Jamuar, S S, Janes, E L, Jeanson, F, Jené, A, Johns, A L, Joly, Y, Jones, S J M, Kanitz, A, Kato, K, Keane, T M, Kekesi-Lafrance, K, Kelleher, J, Kerry, G, Khor, S-S, Knoppers, B M, Konopko, M A, Kosaki, K, Kuba, M, Lawson, J, Leinonen, R, Li, S, Lin, M F, Linden, M, Liu, X, Liyanage, I U, Lopez, J, Lucassen, A M, Lukowski, M, Mann, A L, Marshall, J, Mattioni, M, Metke-Jimenez, A, Middleton, A, Milne, R J, Molnár-Gábor, F, Mulder, N, Munoz-Torres, M C, Nag, R, Nakagawa, H, Nasir, J, Navarro, A, Nelson, T H, Niewielska, A, Nisselle, A, Niu, J, Nyrönen, T H, O'Connor, B D, Oesterle, S, Ogishima, S, Wang, V O, Paglione, L A D, Palumbo, E, Parkinson, H E, Philippakis, A A, Pizarro, A D, Prlic, A, Rambla, J, Rendon, A, Rider, R A, Robinson, P N, Rodarmer, K W, Rodriguez, L L, Rubin, A F, Rueda, M, Rushton, G A, Ryan, R S, Saunders, G I, Schuilenburg, H, Schwede, T, Scollen, S, Senf, A, Sheffield, N C, Skantharajah, N, Smith, A V, Sofia, H J, Spalding, D, Spurdle, A B, Stark, Z, Stein, L D, Suematsu, M, Tan, P, Tedds, J A, Thomson, A A, Thorogood, A, Tickle, T L, Tokunaga, K, Törnroos, J, Torrents, D, Upchurch, S, Valencia, A, Guimera, R V, Varmathevan, J, Varma, S, Vears, D F, Viner, C, Voisin, C, Wagner, A H, Wallace, S E, Walsh, B P, Williams, M S, Winkler, E C, Wold, B J, Wood, G M, Woolley, J P, Yamasaki, C, Yates, A D, Yung, C K, Zass, L J, Zaytseva, K, Zhang, J, Goodhand, P, North, K & Birney, E 2021, ' GA4GH : International policies and standards for data sharing across genomic research and healthcare ', Cell Genomics, vol. 1, no. 2, 100029 . https://doi.org/10.1016/j.xgen.2021.100029
Cell genomics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Cell genomics, vol. 1, no. 2, pp. 100029
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 cost of geno