Elemento Lab

The GA4GH Phenopacket schema defines a computable representation of clinical data.

Submitted by ole2001 on February 6, 2026 - 12:43am
TitleThe GA4GH Phenopacket schema defines a computable representation of clinical data.
Publication TypeJournal Article
Year of Publication2022
AuthorsJacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCKent, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JChandrabos, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C, Haendel MA, Robinson PN
Corporate AuthorsGAGH Phenopacket Modeling Consortium
JournalNat Biotechnol
Volume40
Issue6
Pagination817-820
Date Published2022 Jun
ISSN1546-1696
DOI10.1038/s41587-022-01357-4
Alternate JournalNat Biotechnol
PubMed ID35705716
PubMed Central IDPMC9363006
Grant ListR01 HD103805 / HD / NICHD NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
K99 HG010157 / HG / NHGRI NIH HHS / United States
R00 HG010157 / HG / NHGRI NIH HHS / United States
U54 HG004028 / HG / NHGRI NIH HHS / United States
U24 HG011025 / HG / NHGRI NIH HHS / United States
R24 OD011883 / OD / NIH HHS / United States
U24 TR002306 / TR / NCATS NIH HHS / United States
UL1 TR002384 / TR / NCATS NIH HHS / United States
P01 CA214274 / CA / NCI NIH HHS / United States
/ WT_ / Wellcome Trust / United Kingdom
RM1 HG010860 / HG / NHGRI NIH HHS / United States
U41 HG006627 / HG / NHGRI NIH HHS / United States
U01 HG008473 / HG / NHGRI NIH HHS / United States
OT2 TR003434 / TR / NCATS NIH HHS / United States
U13 CA221044 / CA / NCI NIH HHS / United States
7RM1HG010860-02 / / U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) /
U41 HG006834 / HG / NHGRI NIH HHS / United States
R01 CA194547 / CA / NCI NIH HHS / United States
UM1 OD023221 / OD / NIH HHS / United States