Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Anneke M. Lucassen"'
Autor:
Bettina Friedrich, Cecilia Vindrola-Padros, Anneke M. Lucassen, Chris Patch, Angus Clarke, Monica Lakhanpaul, Celine Lewis
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric
Externí odkaz:
https://doaj.org/article/b3715c433b3d4da385f389dcbcfdc452
Autor:
Gabrielle Samuel, Anneke M. Lucassen
Publikováno v:
Cambridge Prisms: Precision Medicine, Vol 1 (2023)
Opportunities offered by precision medicine have long been promised in the medical and health literature. However, precision medicine – and the methodologies and approaches it relies on – also has adverse environmental impacts. As research into p
Externí odkaz:
https://doaj.org/article/31974dded203409db6f239e3c0e5eb63
Autor:
Saskia C. Sanderson, Lauren Roberts, Cecilia Vindrola-Padros, Sarah L. Wynn, Monica Lakhanpaul, Celine Lewis, Angus Clarke, James Buchanan, Bettina Friedrich, Emma Clement, Melissa Hill, Jillian Hastings-Ward, Anneke M. Lucassen, Ruth Horn, Alexandra Pickard, Chris Patch
Publikováno v:
NIHR Open Research, Vol 1 (2022)
Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is
Externí odkaz:
https://doaj.org/article/74dd057649cd4b4692fbc10805cbd7c6
Autor:
Saskia C. Sanderson, Lauren Roberts, Cecilia Vindrola-Padros, Sarah L. Wynn, Monica Lakhanpaul, Celine Lewis, Angus Clarke, James Buchanan, Bettina Friedrich, Emma Clement, Melissa Hill, Jillian Hastings-Ward, Anneke M. Lucassen, Ruth Horn, Alexandra Pickard, Chris Patch
Publikováno v:
NIHR Open Research, Vol 1 (2021)
Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is
Externí odkaz:
https://doaj.org/article/c79370988e684cb59d6ce1bf20a1d55a
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:
Caroline F. Wright, James S. Ware, Anneke M. Lucassen, Alison Hall, Anna Middleton, Nazneen Rahman, Sian Ellard, Helen V. Firth
Publikováno v:
Wellcome Open Research, Vol 4 (2019)
Sharing de-identified genetic variant data via custom-built online repositories is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accur
Externí odkaz:
https://doaj.org/article/7ca6516c78bf456d975344f4b4a5cf64
Autor:
George Konstantinidis, Adriane Chapman, Mark J. Weal, Ahmed Alzubaidi, Lisa M. Ballard, Anneke M. Lucassen
Publikováno v:
Algorithms, Vol 13, Iss 4, p 87 (2020)
Data processing agreements in health data management are laid out by organisations in monolithic “Terms and Conditions” documents written in natural legal language. These top-down policies usually protect the interest of the service providers, ra
Externí odkaz:
https://doaj.org/article/0e858a80ae5045d08e83bfc39847ce3c
Autor:
Celine, Lewis, James, Buchannan, Angus, Clarke, Emma, Clement, Bettina, Friedrich, Jillian, Hastings-Ward, Melissa, Hill, Ruth, Horn, Anneke M, Lucassen, Chris, Patch, Alexandra, Pickard, Lauren, Roberts, Saskia C, Sanderson, Sarah L, Lewell, Cecilia, Vindrola-Padros, Monica, Lakhanpaul
Publikováno v:
NIHR open research
Background A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de664840b599b0a42fc57080b92becca
https://pubmed.ncbi.nlm.nih.gov/35098132
https://pubmed.ncbi.nlm.nih.gov/35098132
Publikováno v:
Nature reviews. Genetics. 22(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73d5763dd7f8bfc077d08c180d5a5c64
https://pubmed.ncbi.nlm.nih.gov/34050335
https://pubmed.ncbi.nlm.nih.gov/34050335
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