Population sequencing data reveal a compendium of mutational processes in the human germ line
| Submitting Author |
Seplyarskiy, Vladimir
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|---|---|
| Submitting Author's Email | |
| Authors |
Vladimir B. Seplyarskiy1,2*, Ruslan A. Soldatov2*, Ryan J. McGinty1,2, Jakob M. Goldmann3, Ryan Hernandez4, Kathleen Barnes5, Adolfo Correa6-8, Esteban G. Burchard9,10, Patrick T. Ellinor11, Stephen T. McGarvey12,13,14, Braxton Mitchell15,16,17, Vasan S. Ramachandran 18,19, Susan Redline20,21, Edwin Silverman22, Scott T. Weiss20-22, Donna K. Arnett23, Allison E. Ashley-Koch24, Stella Aslibekyan25, John Blangero26,27, Eric Boerwinkle28,29, Brian Custer30,31, Myriam
Fornage32, Mark T. Gladwin33-35, Jiang He36,37, Barbara A. Konkle38,39, Deborah A. Meyers40, Courtney Montgomery41, D.C. Rao42, Jerome I. Rotter43,44, Vivien A. Sheehan45, Kent D. Taylor46, Jennifer A Brody47, Yii-Der Ida Chen48, Lisa de las Fuentes49, Chii-Min Hwu50, Stephen S. Rich51, Ani W. Manichaikul52, Josyf C. Mychaleckyj52, Nicholette D. Palmer53, Timothy D. O’Connor54-56, Leslie S. Emery57, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium†, TOPMed Population Genetics Working Group, Christian Gilissen3, Wendy S.W. Wong58, Peter V. Kharchenko2, Shamil Sunyaev1,2 |
| Journal name for most current submission |
Science
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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"
|
| Acknowledgments |
I have followed instructions for TOPMed Acknowledgments
|
| 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.
|
| 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
|
| 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.
|
| 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 have not
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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:DS-CVD-IRB | Approved automatically after 2 weeks |
| ARIC:HMB-IRB | Approved automatically after 2 weeks |
| Amish:HMB-IRB-MDS | Approved |
| BAGS:GRU-IRB | Approved |
| CCAF:GRU-IRB | Approved automatically after 2 weeks |
| CFS:DS-HLBS-IRB-NPU | Approved automatically after 2 weeks |
| CHS:DS-CVD-MDS | Approved |
| CHS:DS-CVD-NPU-MDS | Approved |
| CHS:HMB-MDS | Approved |
| CHS:HMB-NPU-MDS | Approved |
| COPDGene:DS-CS-RD | Request cancelled by original requester |
| COPDGene:HMB | Approved |
| CRA:DS-ASTHMA-IRB-MDS-RD | Approved |
| DHS:DS-DHD-IRB-COL-NPU | Request cancelled by original requester |
| DHS:HMB-IRB-COL-NPU | Approved |
| EOCOPD:DS-CS-RD | Request cancelled by original requester |
| FHS:HMB-IRB-MDS | Approved automatically after 2 weeks |
| FHS:HMB-IRB-NPU-MDS | Approved automatically after 2 weeks |
| GALAII:DS-LD-IRB-COL | Approved automatically after 2 weeks |
| GENOA:DS-ASC-RF-NPU | Approved automatically after 2 weeks |
| GOLDN:DS-CVD-IRB | Approved |
| GenSalt:GRU-IRB | Approved automatically after 2 weeks |
| GeneSTAR:DS-CVD-IRB-NPU-MDS | Request cancelled by original requester |
| HVH:DS-CVD-IRB-MDS | Approved automatically after 2 weeks |
| HVH:HMB-IRB-MDS | Approved automatically after 2 weeks |
| HyperGEN:DS-CVD-IRB-RD | Approved |
| HyperGEN:GRU-IRB | Approved |
| JHS:DS-FDO-IRB | Approved automatically after 2 weeks |
| JHS:DS-FDO-IRB-NPU | Approved automatically after 2 weeks |
| JHS:HMB-IRB | Approved automatically after 2 weeks |
| JHS:HMB-IRB-NPU | Approved automatically after 2 weeks |
| MESA:HMB | Approved |
| MESA:HMB-NPU | Approved |
| MGH_AF:DS-AF-IRB-RD | Approved automatically after 2 weeks |
| MGH_AF:HMB-IRB | Approved automatically after 2 weeks |
| Mayo_VTE:GRU | Approved |
| Partners:HMB | Approved automatically after 2 weeks |
| SAFS:DS-DHD-IRB-PUB-MDS-RD | Approved |
| SAGE:DS-LD-IRB-COL | Approved automatically after 2 weeks |
| Samoan:GRU-IRB-PUB-COL-NPU-GSO | Approved automatically after 2 weeks |
| Sarcoidosis:DS-SAR-IRB | Approved |
| THRV:DS-CVD-IRB-COL-NPU-RD | Approved automatically after 2 weeks |
| VAFAR:HMB-IRB | Approved |
| VU_AF:GRU-IRB | Approved automatically after 2 weeks |
| WGHS:HMB | Approved automatically after 2 weeks |
| WHI:HMB-IRB | Request cancelled by original requester |
| WHI:HMB-IRB-NPU | Request cancelled by original requester |
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