Structural variation across 138,134 samples in the TOPMed consortium
| Submitting Author |
Sedlazeck, Fritz
|
|---|---|
| Submitting Author's Email | |
| Authors |
Goo Jun *,$,1 , Adam C English *,2 , Ginger A Metcalf 2 , Jianzhi Yang 3 , Mark JP Chaisson 3 , Nathan
Pankratz 4 , Vipin K Menon 2 , William J Salerno 5 , Olga Krasheninina 5 , Albert V Smith6, John A Lane 6 , Tom Blackwell 6 , Zeineen Momin 2 , Qingchang Meng 2 , Hua Shen 2 , Divya Pasham 2 , Sravya Bhamidipati 2 , Kavya Kottapalli 2 , Donna K. Arnett 7 , Allison Ashley-Koch 9,10 , Paul L. Auer 8 , Kathleen M Beutel 11 , Joshua C. Bis 12 , John Blangero 13 , Jennifer A. Brody 12 , Yii-Der Ida Chen 14 , Michael H. Cho 15 , Joanne E. Curran 13 , Myriam Fornage 16 , Tasha Fingerlin 17 , Bruce D. Gelb 18 , Lifang Hou 19 , Yi-Jen Hung 20 , Robert Kaplan 21 , Wonji Kim 22 , Ruth J.F. Loos 23 , Rasika A. Mathias 24 , Courtney Montgomery 25 , Take Naseri 26 , S. Mehdi Nouraie 27 , Michael H. Preuss 23 , Patricia A. Peyser 28 , Aakrosh Ratan 29 , Sefuiva Reupena 31 , Jerome I. Rotter 31,32 , Stephen S. Rich 29 , Michiel Rienstra 33 , Ingo Ruczinski 34 , Vijay G. Sankaran 35,36 , David A. Schwartz 37 , Christine E. Seidman 38,39,40 , Jonathan G. Seidman 38 , Edwin K. Silverman 39 , Jennifer A. Smith 28 , Adrienne Stilp 42 , Kent D. Taylor 30,32 , Marilyn J. Telen 9 , Scott T. Weiss 43 , Keoki L Williams 44 , Baojun Wu 44 , Lisa R. Yanek 24 , Yingze Zhang 45 , Jessica Lasky-Su 43 , Marie Claude Gingras 2 , Susan K. Dutcher 46 , Evan E. Eichler 47,48 , Stacey Gabriel 36 , Soren Germer 49 , Ryan Kim 50 , Karine A. Viaud-Martinez 51 , Deborah A. Nickerson 52 , NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Alex Reiner 53 , Richard A Gibbs 2 , Eric Boerwinkle $,1,2 , Goncalo Abecasis $,5,6 , Fritz J Sedlazeck $,2,54 |
| Journal name for most current submission |
Nature Genetics
|
| 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
|
| 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
|
| 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 have not
|
| 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.
|
| 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.
|
TOPMed data used in this manuscript
The data set approvals listed here should match the TOPMed data used in this manuscript.
Don't see all the data sets you need? Request more data sets at any time.
Please "cancel" any data set requests that were not used in this manuscript. Note: only the paper proposal submitter or their designated updater can cancel data sets.
| Parent Study: Consent Group | Review Status |
|---|---|
| AFLMU:HMB-IRB-PUB-COL-NPU-MDS | Approved |
| ARIC:DS-CVD-IRB | Approved |
| ARIC:HMB-IRB | Approved automatically after 2 weeks |
| Amish:HMB-IRB-MDS | Approved automatically after 2 weeks |
| AustralianFamilialAF:HMB-NPU-MDS | Approved |
| BAGS:GRU-IRB | Approved automatically after 2 weeks |
| BioMe:HMB-NPU | Approved |
| BioVU_AF:HMB-GSO | Approved automatically after 2 weeks |
| Boston-Brazil_SCD:HMB-IRB-COL | Approved automatically after 2 weeks |
| CAMP:DS-AST-COPD | Approved |
| CARDIA:HMB-IRB | Approved automatically after 2 weeks |
| CARDIA:HMB-IRB-NPU | Approved automatically after 2 weeks |
| CARE_BADGER:DS-ASTHMA-IRB-COL | Approved |
| CARE_CLIC:DS-ASTHMA-IRB-COL | Approved |
| CARE_PACT:DS-ASTHMA-IRB-COL | Approved |
| CARE_TREXA:DS-ASTHMA-IRB-COL | Approved |
| CATHGEN:DS-CVD-IRB | Approved automatically after 2 weeks |
| CCAF:GRU-IRB | Approved automatically after 2 weeks |
| CFS:DS-HLBS-IRB-NPU | Approved automatically after 2 weeks |
| CHIRAH:DS-ASTHMA-IRB-COL | 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 | Approved |
| COPDGene:HMB | Approved |
| CRA:DS-ASTHMA-IRB-MDS-RD | Approved |
| ChildrensHS_GAP:GRU | Approved |
| ChildrensHS_IGERA:GRU | Approved |
| ChildrensHS_MetaAir:GRU | Approved |
| DECAF:GRU | Approved |
| DHS:DS-DHD-IRB-COL-NPU | Approved |
| DHS:HMB-IRB-COL-NPU | Approved |
| ECLIPSE:DS-CS-MDS-RD | Approved |
| EGCUT:GRU | Approved automatically after 2 weeks |
| EOCOPD:DS-CS-RD | Approved |
| FHS:HMB-IRB-MDS | Approved |
| FHS:HMB-IRB-NPU-MDS | Approved |
| GALAI:DS-LD-IRB-COL | Approved |
| GALAII:DS-LD-IRB-COL | Approved |
| GCPD-A:DS-ASTHMA-GSO | Approved automatically after 2 weeks |
| GENAF:HMB-NPU | Approved automatically after 2 weeks |
| GENOA:DS-ASC-RF-NPU | Approved |
| GGAF:GRU | Approved |
| GOLDN:DS-CVD-IRB | Approved |
| GenSalt:DS-HCR-IRB | Approved |
| GeneSTAR:DS-CVD-IRB-NPU-MDS | Approved |
| HCHS_SOL:HMB | Approved automatically after 2 weeks |
| HCHS_SOL:HMB-NPU | Approved automatically after 2 weeks |
| HVH:DS-CVD-IRB-MDS | Approved |
| HVH:HMB-IRB-MDS | Approved automatically after 2 weeks |
| HyperGEN:DS-CVD-IRB-RD | Approved |
| HyperGEN:GRU-IRB | Approved automatically after 2 weeks |
| INSPIRE_AF:DS-MULTIPLE_DISEASES-MDS | Approved |
| IPF:DS-ILD-IRB-NPU | Approved |
| IPF:DS-LD-IRB-NPU | Approved |
| IPF:DS-PFIB-IRB-NPU | Approved |
| IPF:DS-PUL-ILD-IRB-NPU | Approved |
| IPF:HMB-IRB-NPU | Approved |
| JHS:DS-FDO-IRB | Approved |
| JHS:DS-FDO-IRB-NPU | Approved |
| JHS:HMB-IRB | Approved |
| JHS:HMB-IRB-NPU | Approved |
| JHU_AF:HMB-NPU-MDS | Approved automatically after 2 weeks |
| LTRC:HMB-MDS | Approved |
| MESA:HMB | Approved automatically after 2 weeks |
| MESA:HMB-NPU | Approved automatically after 2 weeks |
| MGH_AF:DS-AF-IRB-RD | Approved automatically after 2 weeks |
| MGH_AF:HMB-IRB | Approved automatically after 2 weeks |
| MLOF:HMB-PUB | Approved automatically after 2 weeks |
| MPP:HMB-NPU-MDS | Approved |
| Mayo_VTE:GRU | Approved automatically after 2 weeks |
| OMG_SCD:DS-SCD-IRB-PUB-COL-MDS-RD | Approved |
| PCGC_CHD:DS-CHD | Approved |
| PCGC_CHD:HMB | Approved |
| PIMA:DS-ASTHMA-IRB-COL | Approved |
| PROMIS:GRU | Approved automatically after 2 weeks |
| PUSH_SCD:DS-SCD-IRB-PUB-COL | Approved |
| Partners:HMB | Approved automatically after 2 weeks |
| PharmHU:DS-SCD | Approved |
| PharmHU:HMB | Approved automatically after 2 weeks |
| REDS-III_Brazil:GRU-IRB-PUB-COL-NPU | Approved automatically after 2 weeks |
| SAFS:DS-DHD-IRB-PUB-MDS-RD | Approved |
| SAGE:DS-LD-IRB-COL | Approved |
| SAPPHIRE_asthma:HMB-COL | Approved automatically after 2 weeks |
| SARP:GRU | Approved |
| SPIROMICS:DS-COPD | Approved |
| SPIROMICS:DS-COPD-NPU | Approved |
| SPIROMICS:GRU | Approved automatically after 2 weeks |
| SPIROMICS:GRU-NPU | 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 |
| UCSF_AF:DS-ASC-RD-MDS | Approved |
| VAFAR:HMB-IRB | Approved automatically after 2 weeks |
| VU_AF:GRU-IRB | Approved |
| WGHS:HMB | Approved automatically after 2 weeks |
| WHI:HMB-IRB | Approved |
| WHI:HMB-IRB-NPU | Approved |
| miRhythm:GRU | Approved automatically after 2 weeks |
| walk_PHaSST:DS-SCD-IRB-PUB-COL-NPU-MDS-RD | Approved |
| walk_PHaSST:HMB-IRB-PUB-COL-NPU-MDS-GSO | Approved |
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