GA4GH: International policies and standards for data sharing across genomic research and healthcare

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

A human embryonic limb cell atlas resolved in space and time

Autor: Bao Zhang, Peng He, John E Lawrence, Shuaiyu Wang, Elizabeth Tuck, Brian A Williams, Kenny Roberts, Vitalii Kleshchevnikov, Lira Mamanova, Liam Bolt, Krzysztof Polanski, Rasa Elmentaite, Eirini S Fasouli, Martin Prete, Xiaoling He, Nadav Yayon, Yixi Fu, Hao Yang, Chen Liang, Hui Zhang, Raphael Blain, Alain Chedotal, David R. FitzPatrick, Helen Firth, Andrew Dean, John C Marioni, Roger A Barker, Mekayla A Storer, Barbara J Wold, Hongbo Zhang, Sarah A Teichmann

Human limbs emerge during the fourth post-conception week as mesenchymal buds which develop into fully-formed limbs over the subsequent months. Limb development is orchestrated by numerous temporally and spatially restricted gene expression programme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::89383041d1b982d74699809d6916ebe9
https://doi.org/10.1101/2022.04.27.489800

Dissecting the regulatory activity and sequence content of loci with exceptional numbers of transcription factor associations

Autor: Ryne C. Ramaker, Say-Tar Goh, Andrew A. Hardigan, Barbara J. Wold, Richard M. Myers, Sara J. Cooper, E. Christopher Partridge

Publikováno v: Genome Res

DNA associated proteins (DAPs) classically regulate gene expression by binding to regulatory loci such as enhancers or promoters. As expanding catalogs of genome-wide DAP binding maps reveal thousands of loci that, unlike the majority of conventional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b64f33969fc0dd389ac19c2269961b
https://doi.org/10.1101/gr.260463.119

Systematic assessment of long-read RNA-seq methods for transcript identification and quantification

Autor: Hazuki Takahashi, Christopher Vollmers, Stefan Goetz, Margaret E. Hunter, Gabriela Balderrama-Gutierrez, David Moraga, Maite De María, Mark Diekhans, Francisco Jose Pardo-Palacios, Piero Carninci, Jonathan M. Mudge, Roderic Guigó, Gloria M. Sheynkman, Ingrid Youngworth, Kin Fai Au, Matthew Adams, Muhammed Hasan Çelik, Haoran Li, Alison D. Tang, Ana Conesa, Silvia Carbonell-Sala, Barbara J. Wold, Angela N. Brooks, Brian Williams, Julien Lagarde, Cindy Liang, Fairlie Reese, Ali Mortazavi, Andrey D. Prjibelski, Natàlia Garcia-Reyero, Jane E. Loveland, Nancy D. Denslow, Dingjie Wang, Amit Behera, Adam Frankish, Hagen Tilgner, Carlos Menor

With increased usage of long-read sequencing technologies to perform transcriptome analyses, there becomes a greater need to evaluate different methodologies including library preparation, sequencing platform, and computational analysis tools. Here,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::493797105c71ddbcbb569d8057a59b05
https://doi.org/10.21203/rs.3.rs-777702/v1

GA4GH: International policies and standards for data sharing across genomic research and healthcare

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
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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