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De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Manuscript ID: 6273

Submitting Author
O'Connor, Tim
Submitting Author's Email
toconnor@som.umaryland.edu
Authors
Michael D. Kessler, Douglas P. Loesch, James A. Perry, Nancy L. Heard-Costa, Brian E. Cade, Heming Wang, Michelle Daya, John Ziniti, Soma Datta, Juan C Celedón, Manuel E. Soto-Quiros, Lydiana Avila, Scott T. Weiss, Kathleen Barnes, Susan S. Redline, Ramachandran S. Vasan, Andrew D. Johnson, Rasika A. Mathias, Ryan Hernandez, James G. Wilson, Deborah A. Nickerson, Goncalo Abecasis, Sharon R. Browning, Sebastian Zoellner, Jeffrey R. O’Connell, Braxton D. Mitchell, Trans-Omics for Precision Medicine (TOPMed), TOPMed Population Genetics Working Group, Timothy D. O’Connor
Journal name for most current submission
Proceedings of the National Academy of Sciences of the United States of America
Associated TOPMed paper proposal
De novo mutation rates in TOPMed and variation between ancestry groups
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 NOT followed instructions
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
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 have not
I've included at least 1 author from relevant omics center(s) or they declined authorship or deemed acknowledgement sufficient.
I have not

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 Actions
Amish:HMB-IRB-MDS Approved
BAGS:GRU-IRB Approved
CAMP:DS-AST-COPD Approved
CFS:DS-HLBS-IRB-NPU Approved
CRA:DS-ASTHMA-IRB-MDS-RD Approved
FHS:HMB-IRB-MDS Approved automatically after 2 weeks
FHS:HMB-IRB-NPU-MDS Approved automatically after 2 weeks