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A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data

Submitting Author
Battle, Stephanie
Submitting Author's Email
Authors
Stephanie L Battle*, Daniela Puiu*, TOPMed mtDNA Working Group, Eric Boerwinkle, Kent D Taylor, Jerome I Rotter, Stephan S Rich, Megan L Grove, Nathan Pankratz, Jessica L Fetterman, Chunyu Liu, Dan E Arking
Journal name for most current submission
NAR Genom Bioinform
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
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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.
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 have not
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

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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
CARDIA:HMB-IRB Approved automatically after 2 weeks
CARDIA:HMB-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
FHS:HMB-IRB-MDS Approved
FHS:HMB-IRB-NPU-MDS Approved
JHS:DS-FDO-IRB Approved
JHS:DS-FDO-IRB-NPU Approved
JHS:HMB-IRB Approved
JHS:HMB-IRB-NPU Approved
MESA:HMB Approved
MESA:HMB-NPU Approved
WHI:HMB-IRB Approved
WHI:HMB-IRB-NPU Approved
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