Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Manuscript ID: 15854
| Submitting Author |
Lappalainen, Tuuli
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|---|---|
| Submitting Author's Email | |
| Authors |
Jonah Einson1,2, Dafni Glinos2, Eric Boerwinkle3, Peter Castaldi4, Dawood Darbar5, Mariza de Andrade6, Patrick Ellinor7, Myriam Fornage8, Stacey Gabriel9, Soren Germer2, Richard Gibbs10, Craig P. Hersh11, Jill Johnsen12, Robert Kaplan13, Barbara A. Konkle12, Charles Kooperberg14, Rami Nassir15, Ruth J.F. Loos16, Deborah A Meyers17, Braxton D. Mitchell18,19, Bruce Psaty20, Ramachandran S. Vasan21, Stephen S. Rich22, Michael Rienstra23, Jerome I. Rotter24, Aabida Saferali11, M. Benjamin Shoemaker25, Edwin Silverman26, Albert Vernon Smith27, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium28, Pejman Mohammadi29, Stephane E. Castel2,30, Ivan Iossifov2,31, Tuuli Lappalainen32,33,2
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| Journal name for most current submission |
Genetics
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| Associated TOPMed paper proposal | |
| This manuscript has been approved by the original paper proposal's Working Group(s) or is "single PI" |
This manuscript has been approved by the original paper proposal's Working Group(s) or is "single PI"
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| Acknowledgments |
I have followed instructions for TOPMed Acknowledgments
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| I've received approval for all data sets used in this manuscript, including adding new data sets and canceling all unused ones. |
I've received approval for all data sets used in this manuscript, including adding new data sets and canceling all unused ones.
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| I have followed the Data Use Limitations for each of the data sets used in this manuscript, if applicable. |
Yes
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| I've included at least 1 co-author from each study used in analysis or the PI declined an offer to have their study represented. |
Yes
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| I certify that all co-authors have reviewed and approved the manuscript for submission. |
Yes
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| Upload all necessary study-specific approval documentation. | |
| I've included at least 1 DCC/ACC author, or they declined authorship or deemed acknowledgement sufficient. |
I've included at least 1 DCC/ACC author, or they declined authorship or deemed acknowledgement sufficient.
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| I’ve included at least 1 IRC author, or they declined authorship or deemed acknowledgement sufficient. |
I’ve included at least 1 IRC author, or they declined authorship or deemed acknowledgement sufficient.
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| I've included at least 1 author from relevant omics center(s) or they declined authorship or deemed acknowledgement sufficient. |
I've included at least 1 author from relevant omics center(s) or they declined authorship or deemed acknowledgement sufficient.
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TOPMed data used in this manuscript
The data set approvals listed here should match the TOPMed data used in this manuscript.
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| Parent Study: Consent Group | Review Status |
|---|---|
| ARIC:HMB-IRB | Approved automatically after 2 weeks |
| Amish:HMB-IRB-MDS | Approved automatically after 2 weeks |
| BioMe:HMB-NPU | Approved |
| BioVU_AF:HMB-GSO | Approved automatically after 2 weeks |
| CARDIA:HMB-IRB-NPU | Approved automatically after 2 weeks |
| CHS:HMB-NPU-MDS | Approved |
| COPDGene:HMB | Approved |
| FHS:HMB-IRB-NPU-MDS | Approved |
| GGAF:GRU | Approved |
| HCHS_SOL:HMB-NPU | Approved automatically after 2 weeks |
| HVH:HMB-IRB-MDS | Approved automatically after 2 weeks |
| LTRC:HMB-MDS | Approved |
| MESA:HMB-NPU | Approved |
| MGH_AF:HMB-IRB | Approved automatically after 2 weeks |
| MLOF:HMB-PUB | Approved automatically after 2 weeks |
| Mayo_VTE:GRU | Approved automatically after 2 weeks |
| SARP:GRU | Approved automatically after 2 weeks |
| VU_AF:GRU-IRB | Approved automatically after 2 weeks |
| WHI:HMB-IRB-NPU | Approved |
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