GA4GH

GA4GH provides interoperable technical standards, policy frameworks, and federated approaches to enable secure sharing and harmonization of clinical and genomic sequence data, including data from genomic sequencing and genome‑wide molecular assays, to accelerate biomedical research and improve patient care.


Key Features:

  • Harmonized Data Aggregation: Integrates diverse datasets and raw data sources into standardized formats to enhance research utility and clinical application.
  • Federated Approaches: Enables decentralized data access and analysis while maintaining protections for sensitive clinical and genomic information.
  • Interoperable Standards: Develops technical standards to ensure compatibility across platforms, medical systems, patient-centered systems, and knowledgebases.
  • Policy Frameworks: Establishes ethical and regulatory guidelines for the responsible sharing of genomic and clinical data across jurisdictions.

Scientific Applications:

  • Biomedical research acceleration: Facilitates large-scale analysis of sequence data to speed discovery in genomics and related molecular assays.
  • Clinical genomics and patient care: Supports sharing of clinical and genomic data to inform diagnostics and improve patient care.
  • Population-scale genomics: Enables aggregation and analysis of sequence data from millions of individuals and diverse populations.
  • Cross-system data harmonization: Improves interoperability and data exchange among medical systems, patient-centered systems, and knowledgebases.

Methodology:

Employs harmonized data aggregation, federated approaches, and interoperable technical standards developed through Work Streams and Driver Projects, alongside policy frameworks for secure data sharing.

Topics

Details

License:
Apache-2.0
Cost:
Free of charge
Tool Type:
web application, workflow
Operating Systems:
Mac, Linux, Windows
Added:
6/13/2022
Last Updated:
6/13/2022

Operations

Publications

Rehm HL, Page AJ, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJ, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SO, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Guidry Auvil JM, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CW, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux J, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJ, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor S, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R, Li S, Lin MF, Linden M, Liu X, Liyanage IU, Lopez J, Lucassen AM, Lukowski M, Mann AL, Marshall J, Mattioni M, Metke-Jimenez A, Middleton A, Milne RJ, Molnár-Gábor F, Mulder N, Munoz-Torres MC, Nag R, Nakagawa H, Nasir J, Navarro A, Nelson TH, Niewielska A, Nisselle A, Niu J, Nyrönen TH, O’Connor BD, Oesterle S, Ogishima S, Ota Wang V, Paglione LA, Palumbo E, Parkinson HE, Philippakis AA, Pizarro AD, Prlic A, Rambla J, Rendon A, Rider RA, Robinson PN, Rodarmer KW, Rodriguez LL, Rubin AF, Rueda M, Rushton GA, Ryan RS, Saunders GI, Schuilenburg H, Schwede T, Scollen S, Senf A, Sheffield NC, Skantharajah N, Smith AV, Sofia HJ, Spalding D, Spurdle AB, Stark Z, Stein LD, Suematsu M, Tan P, Tedds JA, Thomson AA, Thorogood A, Tickle TL, Tokunaga K, Törnroos J, Torrents D, Upchurch S, Valencia A, Guimera RV, Vamathevan J, Varma S, Vears DF, Viner C, Voisin C, Wagner AH, Wallace SE, Walsh BP, Williams MS, Winkler EC, Wold BJ, Wood GM, Woolley JP, Yamasaki C, Yates AD, Yung CK, Zass LJ, Zaytseva K, Zhang J, Goodhand P, North K, Birney E. GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics. 2021;1(2):100029. doi:10.1016/j.xgen.2021.100029. PMID:35072136. PMCID:PMC8774288.

PMID: 35072136
PMCID: PMC8774288
Funding: - Wellcome Trust: 108749/Z/15/Z, 201535/Z/16/Z, 206194, 220544/Z/20/Z, U41HG006627, U54HG006542 - Eidgenössische Technische Hochschule Zürich: 2017-201 - Natural Sciences and Engineering Research Council of Canada: RGPIN-2015-03948 - Seventh Framework Programme: 305444 - Virginia Marine Resources Commission: MC_PC_19024 - National Institute of General Medical Sciences: R35-GM128636 - National Taiwan University: 109T098-02, 91F701-45C - U.S. National Library of Medicine: 200990/A/16/Z - Ontario Genomics Institute: OGI-206 - National Human Genome Research Institute: K99HG010157, R00HG010157, R35HG011949 - Japan Agency for Medical Research and Development: 19kk0205014h0004, 19km0405001h0104, 20kk0205012h0005, 20kk0205013h0005, 20kk0205014h0005, 20km0405401h0003, JP18kk0205012 - Academy of Finland: 31996 - National Heart, Lung, and Blood Institute: 1OT3HL142478-01, 5118777 - Deutsche Forschungsgemeinschaft: NFDI 1/1 - Robertson Foundation: 779257 - Horizon 2020: 825775 - National Health and Medical Research Council: 1188098, APP177524, GNT1113531, GNT2000001 - National Center for Advancing Translational Sciences: U24TR002306 - Chan Zuckerberg Initiative: 2017-171671 - Canadian Institutes of Health Research: 404896, SBD-163124 - Canarie: RDM-090, RDM2-053 - “la Caixa” Foundation: LCF/PR/GN13/50260009 - Canada Research Chairs: 951724

Documentation

Links