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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Manuscript ID: 6954

Submitting Author
Li, Xihao
Submitting Author's Email
xihaoli@g.harvard.edu
Authors
Xihao Li, Zilin Li, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K. Arnett, Stella Aslibekyan, Christie M. Ballantyne, Lawrence F. Bielak, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jai G. Broome, Jeffrey R. O’Connell, Matthew P. Conomos, Adolfo Correa, Joanne E. Curran, L. Adrienne Cupples, Barry I. Freedman, Xiuqing Guo, Sharon L.R. Kardia, Sekar Kathiresan, Alyna T. Khan, Charles L. Kooperberg, Marguerite R. Irvin, Cathy C. Laurie, Ani W. Manichaikul, Michael C. Mahaney, Rasika A. Mathias, Alanna C. Morrison, Lisa J. Martin, Stephen T. McGarvey, Braxton D. Mitchell, May E. Montasser, Jill Moore, Akhil Pampana, Juan M. Peralta, Patricia A. Peyser, Bruce M. Psaty, Nicholette D. Palmer, Ramachandran S. Vasan, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jennifer A. Smith, Michael Tsai, Hemant K. Tiwari, Fei Fei Wang, Daniel E. Weeks, Zhiping Weng, James G. Wilson, Lisa R. Yanek, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group, Benjamin M. Neale, Shamil R. Sunyaev, Goncalo R. Abecasis, Jerome I. Rotter, Cristen J. Willer, Gina M. Peloso, Pradeep Natarajan and Xihong Lin
Journal name for most current submission
Nature Genetics
Associated TOPMed paper proposal
Boost the power of WGS analysis of blood lipids using dynamic rare variants association tests that optimally incorporate variant functional annotations
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
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

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Parent Study: Consent Group Review Status Actions
ARIC:DS-CVD-IRB Approved automatically after 2 weeks
ARIC:HMB-IRB Approved automatically after 2 weeks
Amish:HMB-IRB-MDS Approved
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
DHS:DS-DHD-IRB-COL-NPU Approved
DHS:HMB-IRB-COL-NPU Approved
FHS:HMB-IRB-MDS Approved automatically after 2 weeks
FHS:HMB-IRB-NPU-MDS Approved automatically after 2 weeks
GENOA:DS-ASC-RF-NPU Approved
GOLDN:DS-CVD-IRB Approved
GeneSTAR:DS-CVD-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
SAFS:DS-DHD-IRB-PUB-MDS-RD Approved
Samoan:GRU-IRB-PUB-COL-NPU-GSO Approved
WHI:HMB-IRB Approved
WHI:HMB-IRB-NPU Approved