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  1. Article ; Online: Colour blind artists: do the Vischeck transformations work?

    Spalding, J Anthony B

    Clinical & experimental optometry

    2010  Volume 93, Issue 3, Page(s) 188

    MeSH term(s) Algorithms ; Art/history ; Australia ; Color Vision ; Color Vision Defects/diagnosis ; Famous Persons ; History, 20th Century ; Humans ; Paintings ; Pedigree
    Language English
    Publishing date 2010-05
    Publishing country Australia
    Document type Comment ; Historical Article ; Letter
    ZDB-ID 639275-1
    ISSN 1444-0938 ; 0816-4622
    ISSN (online) 1444-0938
    ISSN 0816-4622
    DOI 10.1111/j.1444-0938.2010.00477.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Confessions of a colour blind physician.

    Spalding, J Anthony B

    Clinical & experimental optometry

    2004  Volume 87, Issue 4-5, Page(s) 344–349

    Abstract: The author describes his experiences due to his inherited colour vision deficiency, as a child, as student and as a medical practitioner, when he had certain difficulties in clinical work. He quotes from the literature on the clinical skills of ... ...

    Abstract The author describes his experiences due to his inherited colour vision deficiency, as a child, as student and as a medical practitioner, when he had certain difficulties in clinical work. He quotes from the literature on the clinical skills of physicians with this deficiency and gives an account of his own research that involved meeting and testing other doctors of medicine. This revealed a wide range of difficulties experienced by colour vision defective doctors in their practice of medicine with a potentiality for errors. Although there is a number of publications on this subject, the profession has made little response to them. This suggests that it is facing a dilemma that is inhibiting appropriate action. It is suggested that colour vision scientists and medical practitioners need more understanding of each other's discipline if progress is to be made. The advantages of screening of medical students and advising those found to have a deficiency are discussed and lines of research are proposed.
    MeSH term(s) Attitude of Health Personnel ; Attitude to Health ; Color Vision Defects/physiopathology ; Humans ; India ; Japan ; Physician Impairment ; Physicians/psychology ; Taiwan
    Language English
    Publishing date 2004-08-05
    Publishing country Australia
    Document type Journal Article ; Review
    ZDB-ID 639275-1
    ISSN 0816-4622
    ISSN 0816-4622
    DOI 10.1111/j.1444-0938.2004.tb05065.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Advice for medical students and practitioners with colour vision deficiency: a website resource.

    Spalding, J Anthony B / Cole, Barry L / Mir, Fraz A

    Clinical & experimental optometry

    2010  Volume 93, Issue 1, Page(s) 39–41

    MeSH term(s) Attitude of Health Personnel ; Clinical Competence ; Color Perception Tests ; Color Vision Defects/diagnosis ; Humans ; Information Services ; Internet ; Medicine ; Optometry ; Physician Impairment ; Physicians/psychology ; Schools, Medical ; Students, Medical/psychology
    Language English
    Publishing date 2010-01
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 639275-1
    ISSN 1444-0938 ; 0816-4622
    ISSN (online) 1444-0938
    ISSN 0816-4622
    DOI 10.1111/j.1444-0938.2009.00434.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.

    Rambla, Jordi / Baudis, Michael / Ariosa, Roberto / Beck, Tim / Fromont, Lauren A / Navarro, Arcadi / Paloots, Rahel / Rueda, Manuel / Saunders, Gary / Singh, Babita / Spalding, John D / Törnroos, Juha / Vasallo, Claudia / Veal, Colin D / Brookes, Anthony J

    Human mutation

    2022  Volume 43, Issue 6, Page(s) 791–799

    Abstract: Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). The main goal addressed by version 1 of the Beacon protocol was to test the feasibility of broadly sharing human genomic data, through providing ... ...

    Abstract Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). The main goal addressed by version 1 of the Beacon protocol was to test the feasibility of broadly sharing human genomic data, through providing simple "yes" or "no" responses to queries about the presence of a given variant in datasets hosted by Beacon providers. The popularity of this concept has fostered the design of a version 2, that better serves real-world requirements and addresses the needs of clinical genomics research and healthcare, as assessed by several contributing projects and organizations. Particularly, rare disease genetics and cancer research will benefit from new case level and genomic variant level requests and the enabling of richer phenotype and clinical queries as well as support for fuzzy searches. Beacon is designed as a "lingua franca" to bridge data collections hosted in software solutions with different and rich interfaces. Beacon version 2 works alongside popular standards like Phenopackets, OMOP, or FHIR, allowing implementing consortia to return matches in beacon responses and provide a handover to their preferred data exchange format. The protocol is being explored by other research domains and is being tested in several international projects.
    MeSH term(s) Genomics ; Humans ; Information Dissemination/methods ; Phenotype ; Rare Diseases ; Software
    Language English
    Publishing date 2022-04-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24369
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Global dataset of soil organic carbon in tidal marshes.

    Maxwell, Tania L / Rovai, André S / Adame, Maria Fernanda / Adams, Janine B / Álvarez-Rogel, José / Austin, William E N / Beasy, Kim / Boscutti, Francesco / Böttcher, Michael E / Bouma, Tjeerd J / Bulmer, Richard H / Burden, Annette / Burke, Shannon A / Camacho, Saritta / Chaudhary, Doongar R / Chmura, Gail L / Copertino, Margareth / Cott, Grace M / Craft, Christopher /
    Day, John / de Los Santos, Carmen B / Denis, Lionel / Ding, Weixin / Ellison, Joanna C / Ewers Lewis, Carolyn J / Giani, Luise / Gispert, Maria / Gontharet, Swanne / González-Pérez, José A / González-Alcaraz, M Nazaret / Gorham, Connor / Graversen, Anna Elizabeth L / Grey, Anthony / Guerra, Roberta / He, Qiang / Holmquist, James R / Jones, Alice R / Juanes, José A / Kelleher, Brian P / Kohfeld, Karen E / Krause-Jensen, Dorte / Lafratta, Anna / Lavery, Paul S / Laws, Edward A / Leiva-Dueñas, Carmen / Loh, Pei Sun / Lovelock, Catherine E / Lundquist, Carolyn J / Macreadie, Peter I / Mazarrasa, Inés / Megonigal, J Patrick / Neto, Joao M / Nogueira, Juliana / Osland, Michael J / Pagès, Jordi F / Perera, Nipuni / Pfeiffer, Eva-Maria / Pollmann, Thomas / Raw, Jacqueline L / Recio, María / Ruiz-Fernández, Ana Carolina / Russell, Sophie K / Rybczyk, John M / Sammul, Marek / Sanders, Christian / Santos, Rui / Serrano, Oscar / Siewert, Matthias / Smeaton, Craig / Song, Zhaoliang / Trasar-Cepeda, Carmen / Twilley, Robert R / Van de Broek, Marijn / Vitti, Stefano / Antisari, Livia Vittori / Voltz, Baptiste / Wails, Christy N / Ward, Raymond D / Ward, Melissa / Wolfe, Jaxine / Yang, Renmin / Zubrzycki, Sebastian / Landis, Emily / Smart, Lindsey / Spalding, Mark / Worthington, Thomas A

    Scientific data

    2023  Volume 10, Issue 1, Page(s) 797

    Abstract: Tidal marshes store large amounts of organic carbon in their soils. Field data quantifying soil organic carbon (SOC) stocks provide an important resource for researchers, natural resource managers, and policy-makers working towards the protection, ... ...

    Abstract Tidal marshes store large amounts of organic carbon in their soils. Field data quantifying soil organic carbon (SOC) stocks provide an important resource for researchers, natural resource managers, and policy-makers working towards the protection, restoration, and valuation of these ecosystems. We collated a global dataset of tidal marsh soil organic carbon (MarSOC) from 99 studies that includes location, soil depth, site name, dry bulk density, SOC, and/or soil organic matter (SOM). The MarSOC dataset includes 17,454 data points from 2,329 unique locations, and 29 countries. We generated a general transfer function for the conversion of SOM to SOC. Using this data we estimated a median (± median absolute deviation) value of 79.2 ± 38.1 Mg SOC ha
    Language English
    Publishing date 2023-11-11
    Publishing country England
    Document type Dataset ; Journal Article
    ZDB-ID 2775191-0
    ISSN 2052-4463 ; 2052-4463
    ISSN (online) 2052-4463
    ISSN 2052-4463
    DOI 10.1038/s41597-023-02633-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: The description of physical signs of illness in photographs by physicians with abnormal colour vision.

    Campbell, John L / Spalding, J Anthony B / Mir, Fraz A

    Clinical & experimental optometry

    2004  Volume 87, Issue 4-5, Page(s) 334–338

    Abstract: Background: Physicians with congenital colour vision deficiency (CCVD) have reported difficulties recognising certain physical signs of illness, for example, jaundice, red rashes and pallor, and interpreting coloured charts, diagrams and slide ... ...

    Abstract Background: Physicians with congenital colour vision deficiency (CCVD) have reported difficulties recognising certain physical signs of illness, for example, jaundice, red rashes and pallor, and interpreting coloured charts, diagrams and slide projections. However, there has been little study of the effects of CCVD on the performance of medical practitioners.
    Aim: The aim of this study was to look for evidence of the effect of CCVD on the ability of physicians to recognise and describe physical signs of illness that have colour as either the main or an important feature.
    Method: Twenty-three general practitioners with CCVD were shown 11 colour photographs depicting colour signs of illness and were asked to describe the signs they saw and rate their confidence in making their descriptions. Their responses were compared to those of 23 age-matched general practitioners with normal colour vision.
    Result: General practitioners with CCVD compared to those with normal colour vision had less ability and confidence in detecting physical signs in the photographs and naming the colours.
    Conclusions: The results of this study support other evidence that physicians with CCVD have difficulties detecting some colour signs of illness and naming the colours. Because of the use of photographs the extent of the problem in clinical practice is unknown but medical practitioners with CCVD should be aware of the possibility of failing to detect or correctly assess physical signs that are characterised by colour.
    MeSH term(s) Color Vision Defects/congenital ; Disabled Persons ; Female ; Humans ; Male ; Middle Aged ; Pathology/standards ; Physician Impairment
    Language English
    Publishing date 2004-08-05
    Publishing country Australia
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639275-1
    ISSN 0816-4622
    ISSN 0816-4622
    DOI 10.1111/j.1444-0938.2004.tb05063.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: The effect of abnormal colour vision on the ability to identify and outline coloured clinical signs and to count stained bacilli in sputum.

    Campbell, John L / Griffin, Lewis / Spalding, J Anthony B / Mir, Fraz A

    Clinical & experimental optometry

    2005  Volume 88, Issue 6, Page(s) 376–381

    Abstract: Aim: To determine if medical practitioners with congenital colour vision deficiencies (CCVD) are less able to identify and delineate the extent of coloured abnormal signs than those with normal colour vision.: Method: Twenty-two medical practitioners ...

    Abstract Aim: To determine if medical practitioners with congenital colour vision deficiencies (CCVD) are less able to identify and delineate the extent of coloured abnormal signs than those with normal colour vision.
    Method: Twenty-two medical practitioners with CCVD and 17 with normal colour vision, matched for age and gender, were shown 10 photographs. They were asked to identify and outline the extent of the clinical sign in eight that were of vomit or stool (six of these showing fresh blood), one of a skin rash and for one to mark the position of bacilli in sputum stained by the Ziehl-Neelsen method.
    Results: There were statistically significant differences between the CCVD practitioners and those with normal colour vision in their ability to outline abnormalities in five of the six photographs that showed fresh blood, in the photograph of a rash and in marking the position of bacilli in the photograph of a stained slide.
    Conclusion: Medical practitioners with CCVD are handicapped in their evaluation of the presence and extent of coloured clinical signs. Medical schools should ensure that students with CCVD are aware of their deficiency and know its severity, so they can take special care in clinical practice.
    MeSH term(s) Bacillus/isolation & purification ; Blood/metabolism ; Clinical Competence ; Color ; Color Vision Defects/congenital ; Color Vision Defects/physiopathology ; Dermatitis/pathology ; Disabled Persons ; Feces/chemistry ; Hematemesis/pathology ; Humans ; Male ; Middle Aged ; Physicians ; Skin/pathology ; Sputum/microbiology ; Visually Impaired Persons
    Language English
    Publishing date 2005-12-02
    Publishing country Australia
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639275-1
    ISSN 0816-4622
    ISSN 0816-4622
    DOI 10.1111/j.1444-0938.2005.tb05103.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Identifying Suitable Locations for Mesophotic Hard Corals Offshore of Maui, Hawai'i.

    Costa, Bryan / Kendall, Matthew S / Parrish, Frank A / Rooney, John / Boland, Raymond C / Chow, Malia / Lecky, Joey / Montgomery, Anthony / Spalding, Heather

    PloS one

    2015  Volume 10, Issue 7, Page(s) e0130285

    Abstract: Mesophotic hard corals (MHC) are increasingly threatened by a growing number of anthropogenic stressors, including impacts from fishing, land-based sources of pollution, and ocean acidification. However, little is known about their geographic ... ...

    Abstract Mesophotic hard corals (MHC) are increasingly threatened by a growing number of anthropogenic stressors, including impacts from fishing, land-based sources of pollution, and ocean acidification. However, little is known about their geographic distributions (particularly around the Pacific islands) because it is logistically challenging and expensive to gather data in the 30 to 150 meter depth range where these organisms typically live. The goal of this study was to begin to fill this knowledge gap by modelling and predicting the spatial distribution of three genera of mesophotic hard corals offshore of Maui in the Main Hawaiian Islands. Maximum Entropy modeling software was used to create separate maps of predicted probability of occurrence and uncertainty for: (1) Leptoseris, (2) Montipora, and (3) Porites. Genera prevalence was derived from the in situ presence/absence data, and used to convert relative habitat suitability to probability of occurrence values. Approximately 1,300 georeferenced records of the occurrence of MHC, and 34 environmental predictors were used to train the model ensembles. Receiver Operating Characteristic (ROC) Area Under the Curve (AUC) values were between 0.89 and 0.97, indicating excellent overall model performance. Mean uncertainty and mean absolute error for the spatial predictions ranged from 0.006% to 0.05% and 3.73% to 17.6%, respectively. Depth, distance from shore, euphotic depth (mean and standard deviation) and sea surface temperature (mean and standard deviation) were identified as the six most influential predictor variables for partitioning habitats among the three genera. MHC were concentrated between Hanaka'ō'ō and Papawai Points offshore of western Maui most likely because this area hosts warmer, clearer and calmer water conditions almost year round. While these predictions helped to fill some knowledge gaps offshore of Maui, many information gaps remain in the Hawaiian Archipelago and Pacific Islands. This approach may be used to identify other potentially suitable areas for MHCs, helping scientists and resource managers prioritize sites, and focus their limited resources on areas that may be of higher scientific or conservation value.
    MeSH term(s) Animals ; Anthozoa/physiology ; Biodiversity ; Ecology ; Ecosystem ; Geography ; Hawaii ; Models, Theoretical ; Oceans and Seas ; Pacific Islands ; ROC Curve ; Reproducibility of Results ; Software ; Species Specificity ; Temperature
    Language English
    Publishing date 2015
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0130285
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Global dataset of soil organic carbon in tidal marshes

    Tania L. Maxwell / André S. Rovai / Maria Fernanda Adame / Janine B. Adams / José Álvarez-Rogel / William E. N. Austin / Kim Beasy / Francesco Boscutti / Michael E. Böttcher / Tjeerd J. Bouma / Richard H. Bulmer / Annette Burden / Shannon A. Burke / Saritta Camacho / Doongar R. Chaudhary / Gail L. Chmura / Margareth Copertino / Grace M. Cott / Christopher Craft /
    John Day / Carmen B. de los Santos / Lionel Denis / Weixin Ding / Joanna C. Ellison / Carolyn J. Ewers Lewis / Luise Giani / Maria Gispert / Swanne Gontharet / José A. González-Pérez / M. Nazaret González-Alcaraz / Connor Gorham / Anna Elizabeth L. Graversen / Anthony Grey / Roberta Guerra / Qiang He / James R. Holmquist / Alice R. Jones / José A. Juanes / Brian P. Kelleher / Karen E. Kohfeld / Dorte Krause-Jensen / Anna Lafratta / Paul S. Lavery / Edward A. Laws / Carmen Leiva-Dueñas / Pei Sun Loh / Catherine E. Lovelock / Carolyn J. Lundquist / Peter I. Macreadie / Inés Mazarrasa / J. Patrick Megonigal / Joao M. Neto / Juliana Nogueira / Michael J. Osland / Jordi F. Pagès / Nipuni Perera / Eva-Maria Pfeiffer / Thomas Pollmann / Jacqueline L. Raw / María Recio / Ana Carolina Ruiz-Fernández / Sophie K. Russell / John M. Rybczyk / Marek Sammul / Christian Sanders / Rui Santos / Oscar Serrano / Matthias Siewert / Craig Smeaton / Zhaoliang Song / Carmen Trasar-Cepeda / Robert R. Twilley / Marijn Van de Broek / Stefano Vitti / Livia Vittori Antisari / Baptiste Voltz / Christy N. Wails / Raymond D. Ward / Melissa Ward / Jaxine Wolfe / Renmin Yang / Sebastian Zubrzycki / Emily Landis / Lindsey Smart / Mark Spalding / Thomas A. Worthington

    Scientific Data, Vol 10, Iss 1, Pp 1-

    2023  Volume 14

    Abstract: Abstract Tidal marshes store large amounts of organic carbon in their soils. Field data quantifying soil organic carbon (SOC) stocks provide an important resource for researchers, natural resource managers, and policy-makers working towards the ... ...

    Abstract Abstract Tidal marshes store large amounts of organic carbon in their soils. Field data quantifying soil organic carbon (SOC) stocks provide an important resource for researchers, natural resource managers, and policy-makers working towards the protection, restoration, and valuation of these ecosystems. We collated a global dataset of tidal marsh soil organic carbon (MarSOC) from 99 studies that includes location, soil depth, site name, dry bulk density, SOC, and/or soil organic matter (SOM). The MarSOC dataset includes 17,454 data points from 2,329 unique locations, and 29 countries. We generated a general transfer function for the conversion of SOM to SOC. Using this data we estimated a median (± median absolute deviation) value of 79.2 ± 38.1 Mg SOC ha−1 in the top 30 cm and 231 ± 134 Mg SOC ha−1 in the top 1 m of tidal marsh soils globally. This data can serve as a basis for future work, and may contribute to incorporation of tidal marsh ecosystems into climate change mitigation and adaptation strategies and policies.
    Keywords Science ; Q
    Subject code 550 ; 333
    Language English
    Publishing date 2023-11-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: 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 / Auvil, Jaime M Guidry / 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 / Udara Liyanage, Isuru / 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 / Wang, Vivian Ota / 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

    Cell genomics

    2022  Volume 1, Issue 2

    Abstract: 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 ... ...

    Abstract 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.
    Language English
    Publishing date 2022-02-24
    Publishing country United States
    Document type Journal Article
    ISSN 2666-979X
    ISSN (online) 2666-979X
    DOI 10.1016/j.xgen.2021.100029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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