Abstract
| Original language | English |
|---|---|
| Article number | 100029 |
| Journal | Cell Genomics |
| Volume | 1 |
| Issue number | 2 |
| Early online date | 10 Nov 2021 |
| DOIs | |
| Publication status | Published - 10 Nov 2021 |
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GA4GH: International policies and standards for data sharing across genomic research and healthcare. / Rehm, Heidi L.; Page, Angela J.H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J.S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Mélanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O.M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Guidry Auvil, Jaime M.; Guigó, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W.L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jené, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J.M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnár-Gábor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyrönen, Tommi H.; O’Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Ota Wang, Vivian; Paglione, Laura A.D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Törnroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan.
In: Cell Genomics, Vol. 1, No. 2, 100029, 10.11.2021.Research output: Contribution to Journal › Article › peer-review
TY - JOUR
T1 - GA4GH: International policies and standards for data sharing across genomic research and healthcare
AU - Rehm, Heidi L.
AU - Page, Angela J.H.
AU - Smith, Lindsay
AU - Adams, Jeremy B.
AU - Alterovitz, Gil
AU - Babb, Lawrence J.
AU - Barkley, Maxmillian P.
AU - Baudis, Michael
AU - Beauvais, Michael J.S.
AU - Beck, Tim
AU - Beckmann, Jacques S.
AU - Beltran, Sergi
AU - Bernick, David
AU - Bernier, Alexander
AU - Bonfield, James K.
AU - Boughtwood, Tiffany F.
AU - Bourque, Guillaume
AU - Bowers, Sarion R.
AU - Brookes, Anthony J.
AU - Brudno, Michael
AU - Brush, Matthew H.
AU - Bujold, David
AU - Burdett, Tony
AU - Buske, Orion J.
AU - Cabili, Moran N.
AU - Cameron, Daniel L.
AU - Carroll, Robert J.
AU - Casas-Silva, Esmeralda
AU - Chakravarty, Debyani
AU - Chaudhari, Bimal P.
AU - Chen, Shu Hui
AU - Cherry, J. Michael
AU - Chung, Justina
AU - Cline, Melissa
AU - Clissold, Hayley L.
AU - Cook-Deegan, Robert M.
AU - Courtot, Mélanie
AU - Cunningham, Fiona
AU - Cupak, Miro
AU - Davies, Robert M.
AU - Denisko, Danielle
AU - Doerr, Megan J.
AU - Dolman, Lena I.
AU - Dove, Edward S.
AU - Dursi, L. Jonathan
AU - Dyke, Stephanie O.M.
AU - Eddy, James A.
AU - Eilbeck, Karen
AU - Ellrott, Kyle P.
AU - Fairley, Susan
AU - Fakhro, Khalid A.
AU - Firth, Helen V.
AU - Fitzsimons, Michael S.
AU - Fiume, Marc
AU - Flicek, Paul
AU - Fore, Ian M.
AU - Freeberg, Mallory A.
AU - Freimuth, Robert R.
AU - Fromont, Lauren A.
AU - Fuerth, Jonathan
AU - Gaff, Clara L.
AU - Gan, Weiniu
AU - Ghanaim, Elena M.
AU - Glazer, David
AU - Green, Robert C.
AU - Griffith, Malachi
AU - Griffith, Obi L.
AU - Grossman, Robert L.
AU - Groza, Tudor
AU - Guidry Auvil, Jaime M.
AU - Guigó, Roderic
AU - Gupta, Dipayan
AU - Haendel, Melissa A.
AU - Hamosh, Ada
AU - Hansen, David P.
AU - Hart, Reece K.
AU - Hartley, Dean Mitchell
AU - Haussler, David
AU - Hendricks-Sturrup, Rachele M.
AU - Ho, Calvin W.L.
AU - Hobb, Ashley E.
AU - Hoffman, Michael M.
AU - Hofmann, Oliver M.
AU - Holub, Petr
AU - Hsu, Jacob Shujui
AU - Hubaux, Jean-Pierre
AU - Hunt, Sarah E.
AU - Husami, Ammar
AU - Jacobsen, Julius O.
AU - Jamuar, Saumya S.
AU - Janes, Elizabeth L.
AU - Jeanson, Francis
AU - Jené, Aina
AU - Johns, Amber L.
AU - Joly, Yann
AU - Jones, Steven J.M.
AU - Kanitz, Alexander
AU - Kato, Kazuto
AU - Keane, Thomas M.
AU - Kekesi-Lafrance, Kristina
AU - Kelleher, Jerome
AU - Kerry, Giselle
AU - Khor, Seik-Soon
AU - Knoppers, Bartha M.
AU - Konopko, Melissa A.
AU - Kosaki, Kenjiro
AU - Kuba, Martin
AU - Lawson, Jonathan
AU - Leinonen, Rasko
AU - Li, Stephanie
AU - Lin, Michael F.
AU - Linden, Mikael
AU - Liu, Xianglin
AU - Liyanage, Isuru Udara
AU - Lopez, Javier
AU - Lucassen, Anneke M.
AU - Lukowski, Michael
AU - Mann, Alice L.
AU - Marshall, John
AU - Mattioni, Michele
AU - Metke-Jimenez, Alejandro
AU - Middleton, Anna
AU - Milne, Richard J.
AU - Molnár-Gábor, Fruzsina
AU - Mulder, Nicola
AU - Munoz-Torres, Monica C.
AU - Nag, Rishi
AU - Nakagawa, Hidewaki
AU - Nasir, Jamal
AU - Navarro, Arcadi
AU - Nelson, Tristan H.
AU - Niewielska, Ania
AU - Nisselle, Amy
AU - Niu, Jeffrey
AU - Nyrönen, Tommi H.
AU - O’Connor, Brian D.
AU - Oesterle, Sabine
AU - Ogishima, Soichi
AU - Ota Wang, Vivian
AU - Paglione, Laura A.D.
AU - Palumbo, Emilio
AU - Parkinson, Helen E.
AU - Philippakis, Anthony A.
AU - Pizarro, Angel D.
AU - Prlic, Andreas
AU - Rambla, Jordi
AU - Rendon, Augusto
AU - Rider, Renee A.
AU - Robinson, Peter N.
AU - Rodarmer, Kurt W.
AU - Rodriguez, Laura Lyman
AU - Rubin, Alan F.
AU - Rueda, Manuel
AU - Rushton, Gregory A.
AU - Ryan, Rosalyn S.
AU - Saunders, Gary I.
AU - Schuilenburg, Helen
AU - Schwede, Torsten
AU - Scollen, Serena
AU - Senf, Alexander
AU - Sheffield, Nathan C.
AU - Skantharajah, Neerjah
AU - Smith, Albert V.
AU - Sofia, Heidi J.
AU - Spalding, Dylan
AU - Spurdle, Amanda B.
AU - Stark, Zornitza
AU - Stein, Lincoln D.
AU - Suematsu, Makoto
AU - Tan, Patrick
AU - Tedds, Jonathan A.
AU - Thomson, Alastair A.
AU - Thorogood, Adrian
AU - Tickle, Timothy L.
AU - Tokunaga, Katsushi
AU - Törnroos, Juha
AU - Torrents, David
AU - Upchurch, Sean
AU - Valencia, Alfonso
AU - Guimera, Roman Valls
AU - Vamathevan, Jessica
AU - Varma, Susheel
AU - Vears, Danya F.
AU - Viner, Coby
AU - Voisin, Craig
AU - Wagner, Alex H.
AU - Wallace, Susan E.
AU - Walsh, Brian P.
AU - Williams, Marc S.
AU - Winkler, Eva C.
AU - Wold, Barbara J.
AU - Wood, Grant M.
AU - Woolley, J. Patrick
AU - Yamasaki, Chisato
AU - Yates, Andrew D.
AU - Yung, Christina K.
AU - Zass, Lyndon J.
AU - Zaytseva, Ksenia
AU - Zhang, Junjun
AU - Goodhand, Peter
AU - North, Kathryn
AU - Birney, Ewan
PY - 2021/11/10
Y1 - 2021/11/10
N2 - 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 genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.
AB - 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 genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.
U2 - https://doi.org/10.1016/j.xgen.2021.100029
DO - https://doi.org/10.1016/j.xgen.2021.100029
M3 - Article
VL - 1
JO - Cell Genomics
JF - Cell Genomics
SN - 2666-979X
IS - 2
M1 - 100029
ER -