De La Vega, Francisco M. http://orcid.org/0000-0002-9228-2097
Chowdhury, Shimul
Moore, Barry
Frise, Erwin
McCarthy, Jeanette
Hernandez, Edgar Javier
Wong, Terence
James, Kiely
Guidugli, Lucia
Agrawal, Pankaj B.
Genetti, Casie A.
Brownstein, Catherine A.
Beggs, Alan H.
Löscher, Britt-Sabina
Franke, Andre
Boone, Braden
Levy, Shawn E.
Õunap, Katrin
Pajusalu, Sander
Huentelman, Matt
Ramsey, Keri
Naymik, Marcus
Narayanan, Vinodh
Veeraraghavan, Narayanan
Billings, Paul
Reese, Martin G.
Yandell, Mark
Kingsmore, Stephen F.
Funding for this research was provided by:
TGen Foundation
Estonian Research Council (PUT355, PRG471, MOBTP175 and PUTJD827)
National Human Genome Research Institute (UM1 HG008900, HG009141, U54HD090255)
Muscular Dystrophy Association (MDA602235)
Article History
Received: 22 March 2021
Accepted: 27 August 2021
First Online: 14 October 2021
Declarations
:
: The need for Institutional Review Board Approval at Rady Children’s Hospital for the current study was waived as all data used from this project had previously been generated as part of IRB approved studies and none of the results reported in this manuscript can be used to identify individual patients. The studies from which cases derived from were previously approved by the Institutional Review Boards of Rady Children’s Hospital, Boston Children’s Hospital (IRB protocols 03-08-128R and 10-02-0053), Christian-Albrechts University of Kiel (approval #A-156/02), HudsonAlpha Institute for Biotechnology (Western Institutional Review Board #20130675 and the University of Alabama at Birmingham #X130201001), the Translational Genomics Research Institute (WIRB® Protocol #20120789), and the Research Ethics Committee of the University of Tartu (approvals #263/M-16 and #2871N). These studies were performed in accordance with the Declaration of Helsinki and informed consent was obtained from at least one parent or guardian.
: Not applicable.
: FV, EF, JM, and MGR were employees of Fabric Genomics Inc. during the performance of this work and have received stock grants from Fabric Genomics Inc. BM, PB, and MY are consultants to Fabric Genomics Inc. and have received consulting fees and stock grants from Fabric Genomics Inc. The remaining authors declare that they have no competing interests.