Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Orion J, Buske"'
Autor:
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Many patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device industries, and patient s
Externí odkaz:
https://doaj.org/article/c9ca331354bc45bb934c597b9e06fa26
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:
Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel
There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbb
https://doi.org/10.1101/2022.04.13.22273750
https://doi.org/10.1101/2022.04.13.22273750
Autor:
Hannah G, Driver, Taila, Hartley, E Magda, Price, Andrei L, Turinsky, Orion J, Buske, Matthew, Osmond, Arun K, Ramani, Emily, Kirby, Kristin D, Kernohan, Madeline, Couse, Hillary, Elrick, Kevin, Lu, Pouria, Mashouri, Aarthi, Mohan, Delvin, So, Conor, Klamann, Hannah G B H, Le, Andrea, Herscovich, Christian R, Marshall, Andrew, Statia, Care Rare, Canada Consortium, Bartha M, Knoppers, Michael, Brudno, Kym M, Boycott
Publikováno v:
Human mutation. 43(6)
Despite recent progress in the understanding of the genetic etiologies of rare diseases (RDs), a significant number remain intractable to diagnostic and discovery efforts. Broad data collection and sharing of information among RD researchers is there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2509daedec9a1cd7a4cbef0069405502
https://pubmed.ncbi.nlm.nih.gov/35181971
https://pubmed.ncbi.nlm.nih.gov/35181971
Autor:
Matthew Osmond, Taila Hartley, David A. Dyment, Kristin D. Kernohan, Michael Brudno, Orion J. Buske, A. Micheil Innes, Kym M. Boycott, Kym Boycott, Francois Bernier, Clara van Karnebeek, David Dyment, Kristin Kernohan, Micheil Innes, Ryan Lamont, Jillian Parboosingh, Deborah Marshall, Christian Marshall, Roberto Mendoza, James Dowling, Robin Hayeems, Bartha Knoppers, Anna Lehman, Sara Mostafavi
Publikováno v:
Genetics in Medicine, 24(1), 100-108. Lippincott Williams and Wilkins
Genetics in medicine, 24(1), 100-108. Lippincott Williams and Wilkins
Care4Rare Canada Consortium 2022, ' Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery : The 2-year experience of Care4Rare Canada ', Genetics in Medicine, vol. 24, no. 1, pp. 100-108 . https://doi.org/10.1016/j.gim.2021.08.014
Genetics in medicine, 24(1), 100-108. Lippincott Williams and Wilkins
Care4Rare Canada Consortium 2022, ' Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery : The 2-year experience of Care4Rare Canada ', Genetics in Medicine, vol. 24, no. 1, pp. 100-108 . https://doi.org/10.1016/j.gim.2021.08.014
Purpose: Matchmaking has emerged as a useful strategy for building evidence toward causality of novel disease genes in patients with undiagnosed rare diseases. The Matchmaker Exchange (MME) is a collaborative initiative that facilitates international
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7efeb0aa7a0464da98a39699fed7beed
https://research.vumc.nl/en/publications/3f110bf7-df13-477a-b69e-084e3705637e
https://research.vumc.nl/en/publications/3f110bf7-df13-477a-b69e-084e3705637e
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c734eb108aca696729e07ad1bb534379
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
Publikováno v:
The American Journal of Human Genetics. 103:389-399
Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fe5ddc3369649addf62708c69fb2a46
https://doi.org/10.1016/j.ajhg.2018.08.003
https://doi.org/10.1016/j.ajhg.2018.08.003
Autor:
Rūta Petereit, Richie Jeremian, Edward Saehong Oh, Artūras Petronis, Carolyn Ptak, Giedrius Gasiūnas, Limas Kupčinskas, Michael Brudno, Orion J. Buske, Virginijus Siksnys, Almantas Maleckas, Viviane Labrie
Publikováno v:
European Neuropsychopharmacology. 27:S107-S138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75a6877056dc86e3162d9ad4e8a1fabe
https://doi.org/10.1016/j.euroneuro.2015.09.009
https://doi.org/10.1016/j.euroneuro.2015.09.009
Autor:
Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall
Publikováno v:
Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.hum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2949ed30b7148e6f5cc842edf930f06f
https://doi.org/10.1093/nar/gkw1039
https://doi.org/10.1093/nar/gkw1039
Autor:
Aiping Zhang, Karolis Koncevičius, Kęstutis Adamonis, Rūta Petereit, Gabriel Oh, Michael Brudno, Virginijus Siksnys, Edita Kriukienė, Arturas Petronis, Viviane Labrie, Almantas Maleckas, Giedrius Gasiūnas, Richie Jeremian, Juozas Gordevičius, Akhil Nair, Limas Kupčinskas, Orion J. Buske, Aida Žvirbliene, Edward Saehong Oh, Carolyn Ptak, Sasha Ebrahimi
Publikováno v:
Nature structural & molecular biology
The inability to digest lactose, due to lactase nonpersistence, is a common trait in adult mammals, except in certain human populations that exhibit lactase persistence. It is not known how the lactase gene is dramatically downregulated with age in m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d442e355649110b95461616d2a7c8fe7
https://doi.org/10.1038/nsmb.3227
https://doi.org/10.1038/nsmb.3227