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Authors
Owen, Mallory J.
Lefebvre, Sebastien https://orcid.org/0000-0002-6076-2926
Hansen, Christian
Kunard, Chris M.
Dimmock, David P. https://orcid.org/0000-0001-6690-2523
Smith, Laurie D.
Scharer, Gunter
Mardach, Rebecca
Willis, Mary J.
Feigenbaum, Annette
Niemi, Anna-Kaisa
Ding, Yan
Van Der Kraan, Luca
Ellsworth, Katarzyna
Guidugli, Lucia
Lajoie, Bryan R.
McPhail, Timothy K.
Mehtalia, Shyamal S.
Chau, Kevin K.
Kwon, Yong H.
Zhu, Zhanyang https://orcid.org/0000-0002-5442-1121
Batalov, Sergey https://orcid.org/0000-0002-0925-0554
Chowdhury, Shimul
Rego, Seema https://orcid.org/0000-0001-7425-4319
Perry, James
Speziale, Mark
Nespeca, Mark
Wright, Meredith S.
Reese, Martin G. https://orcid.org/0000-0001-8297-245X
De La Vega, Francisco M.
Azure, Joe
Frise, Erwin https://orcid.org/0000-0002-9281-4567
Rigby, Charlene Son https://orcid.org/0000-0001-8627-996X
White, Sandy
Hobbs, Charlotte A.
Gilmer, Sheldon https://orcid.org/0000-0002-5295-1065
Knight, Gail
Oriol, Albert
Lenberg, Jerica
Nahas, Shareef A.
Perofsky, Kate
Kim, Kyu
Carroll, Jeanne
Coufal, Nicole G.
Sanford, Erica
Wigby, Kristen
Weir, Jacqueline
Thomson, Vicki S.
Fraser, Louise https://orcid.org/0000-0001-9709-6827
Lazare, Seka S. https://orcid.org/0000-0002-6519-4454
Shin, Yoon H.
Grunenwald, Haiying
Lee, Richard
Jones, David https://orcid.org/0000-0001-7433-5995
Tran, Duke
Gross, Andrew
Daigle, Patrick
Case, Anne
Lue, Marisa
Richardson, James A.
Reynders, John https://orcid.org/0000-0002-4067-9500
Defay, Thomas https://orcid.org/0000-0002-5801-9017
Hall, Kevin P. https://orcid.org/0000-0002-8420-7791
Veeraraghavan, Narayanan
Kingsmore, Stephen F. https://orcid.org/0000-0001-7180-2527
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Funding
Funding for this research was provided by:
U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077693)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (U19HD077693)
U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (U01TR002271, UL1TR002550)
U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences
Rady Children's Hospital, Ernest and Evelyn Rady, Alexion Inc.
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Article History
Received: 13 May 2021
Accepted: 8 June 2022
First Online: 26 July 2022
Competing interests
: M.G.R., F.D.L.V., C.S.R., J.A., S.W., and E.F. are employees and stockholders of Fabric Genomics, Inc. and have equity holdings and stock options. T.D., J.R., and S.L. are employees of Alexion Pharmaceuticals, Inc. and have equity holdings and stock options. K.P.H., J.A.R., M.L., A.C., P.D., A.G., D.T., D.J., R.L., H.G., S.S.L., Y.H.S., L.F., C.M.K., B.R.L., T.K.M., S.S.M., J.W., and V.S.T. are employees of Illumina, Inc. and have equity holdings and stock options. D.D. received funding from Biomarin (consultant for Pegvaliase trials), Audentes Therapeutics (Scientific Advisory Board), and Ichorion Therapeutics (consultant for mitochondrial disease drugs). M.B. owns stock in Codified Genomics and is a consultant for Baebies Inc. Related to the current work, S.F.K. and S.L. filed provisional patent application 63/209,797, entitled “Method and system for improved management of genetic diseases” with the U.S. Patent and Trademark Office. The remaining authors have no competing interests.
