| Original language | English (US) |
|---|---|
| Pages (from-to) | 817-820 |
| Number of pages | 4 |
| Journal | Nature biotechnology |
| Volume | 40 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 2022 |
| Externally published | Yes |
ASJC Scopus subject areas
- Applied Microbiology and Biotechnology
- Bioengineering
- Molecular Medicine
- Biotechnology
- Biomedical Engineering
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In: Nature biotechnology, Vol. 40, No. 6, 06.2022, p. 817-820.
Research output: Contribution to journal › Letter › peer-review
}
TY - JOUR
T1 - The GA4GH Phenopacket schema defines a computable representation of clinical data
AU - The GAGH Phenopacket Modeling Consortium
AU - Jacobsen, Julius O.B.
AU - Baudis, Michael
AU - Baynam, Gareth S.
AU - Beckmann, Jacques S.
AU - Beltran, Sergi
AU - Buske, Orion J.
AU - Callahan, Tiffany J.
AU - Chute, Christopher G.
AU - Courtot, Mélanie
AU - Danis, Daniel
AU - Elemento, Olivier
AU - Essenwanger, Andrea
AU - Freimuth, Robert R.
AU - Gargano, Michael A.
AU - Groza, Tudor
AU - Hamosh, Ada
AU - Harris, Nomi L.
AU - Kaliyaperumal, Rajaram
AU - Lloyd, Kevin C.Kent
AU - Khalifa, Aly
AU - Krawitz, Peter M.
AU - Köhler, Sebastian
AU - Laraway, Brian J.
AU - Lehväslaiho, Heikki
AU - Matalonga, Leslie
AU - McMurry, Julie A.
AU - Metke-Jimenez, Alejandro
AU - Mungall, Christopher J.
AU - Munoz-Torres, Monica C.
AU - Ogishima, Soichi
AU - Papakonstantinou, Anastasios
AU - Piscia, Davide
AU - Pontikos, Nikolas
AU - Queralt-Rosinach, Núria
AU - Roos, Marco
AU - Sass, Julian
AU - Schofield, Paul N.
AU - Seelow, Dominik
AU - Siapos, Anastasios
AU - Smedley, Damian
AU - Smith, Lindsay D.
AU - Steinhaus, Robin
AU - Sundaramurthi, Jagadish Chandrabose
AU - Swietlik, Emilia M.
AU - Thun, Sylvia
AU - Vasilevsky, Nicole A.
AU - Wagner, Alex H.
AU - Warner, Jeremy L.
AU - Weiland, Claus
AU - Haendel, Melissa A.
N1 - Funding Information: The authors gratefully acknowledge insight and feedback from Marian H. Adly, Pier Luigi Buttigieg, Janine Lewis, Manuel Posada de la Paz and Maria Taboada. This work was supported by 7RM1HG010860-02 (NHGRI). Additional funding was as follows. P.N.R. was supported by NLM contract 75N97019P00280, NIH NHGRI RM1HG010860, NIH OD R24OD011883 and NIH NICHD 1R01HD103805-01. H.H. was supported by NIH OD R24OD011883. G.I.S. was supported by ELIXIR, the research infrastructure for life-science data. C.G.C. was supported by NIH NCATS U24TR002306. K.C.L. was supported by NIH OD 5UM1OD023221. M.B. was supported by the BioMedIT Network project of the Swiss Institute of Bioinformatics (SIB) and Swiss Personalized Health Network (SPHN). A.H.W. was supported by NIH NHGRI K99HG010157 and NIH NHGRI R00HG010157. C.J.M., M.A.H., M.C.M.-T., J.A.M. and D.D. were supported by NIH NHGRI RM1HG010860 and NIH OD R24OD011883. A.M.-J. was supported by Australian Genomics. Australian Genomics is supported by the National Health and Medical Research Council (GNT1113531). D. Smedley and J.O.B.J. were supported by NIH NHGRI RM1HG010860, NIH OD R24OD011883 and NIH NICHD 1R01HD103805-01. M.D. was supported by NIH NHGRI U54HG004028, NIH NHGRI 5U01HG008473-03 and NIH NCATS OT2TR003434-01S1U54HG008033-01. G.S.B. was supported by the Roy Hill Community Foundation, Angela Wright Bennett Foundation, McCusker Charitable Foundation, Borlaug Foundation and Stan Perron Charitable Foundation. L.B. was supported by NIH NHGRI U41HG006834 (Clinical Genome Resource). M.C. was supported by EMBL-EBI Core Funds and Wellcome Trust GA4GH award number 201535/Z/16/Z. A.H. was supported by NIH NHGRI 1U41HG006627, NIH NHGRI 1U54HG006542 and NIH NHGRI 1RM1HG010860. P.N.S. was supported by The Alan Turing Institute. N.L.H. was supported by NIH NHGRI RM1HG010860, NIH OD R24OD011883 and US Department of Energy Contract DE-AC02-05CH11231. N.P. was supported by Moorfields Eye Charity. N.Q.-R. was supported by EU Horizon 2020 research and innovation programme grant agreement 825575 (EJP-RD). O.E. was supported by NIH grants UL1TR002384, R01CA194547 and P01CA214274, LLS SCOR grants 180078-01 and 7021-20 and Starr Cancer Consortium grant I11-0027. H. Lochmüller was supported by the CIHR Foundation Grant on Precision Health for Neuromuscular Diseases FDN-167281. R.T. was supported by CIHR postdoctoral fellowship award MFE-171275. L.D.S. was supported by Genome Canada and NIH NHGRI U24HG011025. S.O. was supported by AMED. D.P., L.M., A.P., S.B., M.R. and R.K. were supported by EU Horizon 2020 research and innovation programme grant agreements 779257 (Solve-RD) and 825575 (EJP-RD). R.R.F. was supported by NLM contract 75N97019P00280. Funding Information: The authors gratefully acknowledge insight and feedback from Marian H. Adly, Pier Luigi Buttigieg, Janine Lewis, Manuel Posada de la Paz and Maria Taboada. This work was supported by 7RM1HG010860-02 (NHGRI). Additional funding was as follows. P.N.R. was supported by NLM contract 75N97019P00280, NIH NHGRI RM1HG010860, NIH OD R24OD011883 and NIH NICHD 1R01HD103805-01. H.H. was supported by NIH OD R24OD011883. G.I.S. was supported by ELIXIR, the research infrastructure for life-science data. C.G.C. was supported by NIH NCATS U24TR002306. K.C.L. was supported by NIH OD 5UM1OD023221. M.B. was supported by the BioMedIT Network project of the Swiss Institute of Bioinformatics (SIB) and Swiss Personalized Health Network (SPHN). A.H.W. was supported by NIH NHGRI K99HG010157 and NIH NHGRI R00HG010157. C.J.M., M.A.H., M.C.M.-T., J.A.M. and D.D. were supported by NIH NHGRI RM1HG010860 and NIH OD R24OD011883. A.M.-J. was supported by Australian Genomics. Australian Genomics is supported by the National Health and Medical Research Council (GNT1113531). D. Smedley and J.O.B.J. were supported by NIH NHGRI RM1HG010860, NIH OD R24OD011883 and NIH NICHD 1R01HD103805-01. M.D. was supported by NIH NHGRI U54HG004028, NIH NHGRI 5U01HG008473-03 and NIH NCATS OT2TR003434-01S1U54HG008033-01. G.S.B. was supported by the Roy Hill Community Foundation, Angela Wright Bennett Foundation, McCusker Charitable Foundation, Borlaug Foundation and Stan Perron Charitable Foundation. L.B. was supported by NIH NHGRI U41HG006834 (Clinical Genome Resource). M.C. was supported by EMBL-EBI Core Funds and Wellcome Trust GA4GH award number 201535/Z/16/Z. A.H. was supported by NIH NHGRI 1U41HG006627, NIH NHGRI 1U54HG006542 and NIH NHGRI 1RM1HG010860. P.N.S. was supported by The Alan Turing Institute. N.L.H. was supported by NIH NHGRI RM1HG010860, NIH OD R24OD011883 and US Department of Energy Contract DE-AC02-05CH11231. N.P. was supported by Moorfields Eye Charity. N.Q.-R. was supported by EU Horizon 2020 research and innovation programme grant agreement 825575 (EJP-RD). O.E. was supported by NIH grants UL1TR002384, R01CA194547 and P01CA214274, LLS SCOR grants 180078-01 and 7021-20 and Starr Cancer Consortium grant I11-0027. H. Lochmüller was supported by the CIHR Foundation Grant on Precision Health for Neuromuscular Diseases FDN-167281. R.T. was supported by CIHR postdoctoral fellowship award MFE-171275. L.D.S. was supported by Genome Canada and NIH NHGRI U24HG011025. S.O. was supported by AMED. D.P., L.M., A.P., S.B., M.R. and R.K. were supported by EU Horizon 2020 research and innovation programme grant agreements 779257 (Solve-RD) and 825575 (EJP-RD). R.R.F. was supported by NLM contract 75N97019P00280.
PY - 2022/6
Y1 - 2022/6
UR - http://www.scopus.com/inward/record.url?scp=85132078778&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85132078778&partnerID=8YFLogxK
U2 - 10.1038/s41587-022-01357-4
DO - 10.1038/s41587-022-01357-4
M3 - Letter
C2 - 35705716
AN - SCOPUS:85132078778
SN - 1087-0156
VL - 40
SP - 817
EP - 820
JO - Nature biotechnology
JF - Nature biotechnology
IS - 6
ER -