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Authors
Stenton, Sarah L.
O’Leary, Melanie C.
Lemire, Gabrielle
VanNoy, Grace E.
DiTroia, Stephanie
Ganesh, Vijay S.
Groopman, Emily
O’Heir, Emily
Mangilog, Brian
Osei-Owusu, Ikeoluwa
Pais, Lynn S.
Serrano, Jillian
Singer-Berk, Moriel
Weisburd, Ben
Wilson, Michael W.
Austin-Tse, Christina
Abdelhakim, Marwa
Althagafi, Azza
Babbi, Giulia
Bellazzi, Riccardo
Bovo, Samuele
Carta, Maria Giulia
Casadio, Rita
Coenen, Pieter-Jan
De Paoli, Federica
Floris, Matteo
Gajapathy, Manavalan
Hoehndorf, Robert
Jacobsen, Julius O. B.
Joseph, Thomas
Kamandula, Akash
Katsonis, Panagiotis
Kint, Cyrielle
Lichtarge, Olivier
Limongelli, Ivan
Lu, Yulan
Magni, Paolo
Mamidi, Tarun Karthik Kumar
Martelli, Pier Luigi
Mulargia, Marta
Nicora, Giovanna
Nykamp, Keith
Pejaver, Vikas
Peng, Yisu
Pham, Thi Hong Cam
Podda, Maurizio S.
Rao, Aditya
Rizzo, Ettore
Saipradeep, Vangala G.
Savojardo, Castrense
Schols, Peter
Shen, Yang
Sivadasan, Naveen
Smedley, Damian
Soru, Dorian
Srinivasan, Rajgopal
Sun, Yuanfei
Sunderam, Uma
Tan, Wuwei
Tiwari, Naina
Wang, Xiao
Wang, Yaqiong
Williams, Amanda
Worthey, Elizabeth A.
Yin, Rujie
You, Yuning
Zeiberg, Daniel
Zucca, Susanna
Bakolitsa, Constantina
Brenner, Steven E.
Fullerton, Stephanie M.
Radivojac, Predrag
Rehm, Heidi L.
O’Donnell-Luria, Anne
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Funding
Funding for this research was provided by:
Manton Center for Orphan Disease Research
Fonds de recherche en santé du Quebec
Mass General Brigham Training Program in Precision and Genomic Medicine (NHGRI T32 HG10464)
King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research (URF/1/4355-01-01, URF/1/4675-01-01, FCC/1/1976-34-01, URF/1/4355-01-01, URF/1/4675-01-01, FCC/1/1976-34-01, URF/1/4355-01-01, URF/1/4675-01-01, FCC/1/1976-34-01)
National Institute of Child Health and Human Development (1R01HD103805‐01, 1R01HD103805‐01)
National Human Genome Research Institute (U24 HG007346, U24 HG007346, UM1HG008900, U01HG011755, R01HG009141, UM1HG008900, U01HG011755, R01HG009141)
Chan Zuckerberg Initiative (2020-224274, 2020-224274)
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Article History
Received: 11 August 2023
Accepted: 2 April 2024
First Online: 29 April 2024
Declarations
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: The Rare Genomes Project study is approved by the Mass General Brigham Institutional Review Board (IRB) protocol 2016P001422.
: Written informed consent for the publication of clinical details was obtained from the participants or legal guardians.
: Authors S.Z., I.L., E.R., P.M., and R.B., own shares of enGenome srl. Authors F.D.P. and G.N. are employees of enGenome srl. Authors T.J., R.S., S.G.V., N.S., A.R., U.S., N.T., are employees of TCS Ltd. Authors P.J.C., C.K., K.N., and P.S. are employees of Invitae Ltd. H.L.R. receives support from Illumina and Microsoft for rare disease gene discovery and diagnosis. A.O’D-L. is a member of the scientific advisory board for Congenica Inc and chairs the clinical advisory board for CAGI. S.E.B receives support at UC Berkeley from a research agreement from TCS. All other authors report no competing interests.
