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Get Free AccessLarge-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative traits-plasma total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, and triglycerides. Common variant association yields known loci except for few variants previously poorly imputed. Rare coding variant association yields known Mendelian dyslipidemia genes but rare non-coding variant association detects no signals. A high 2M-SNP LDL-C polygenic score (top 5th percentile) confers similar effect size to a monogenic mutation (~30 mg/dl higher for each); however, among those with severe hypercholesterolemia, 23% have a high polygenic score and only 2% carry a monogenic mutation. At these sample sizes and for these phenotypes, the incremental value of WGS for discovery is limited but WGS permits simultaneous assessment of monogenic and polygenic models to severe hypercholesterolemia.
Pradeep Natarajan, Gina M. Peloso, Seyedeh M. Zekavat, May E. Montasser, Andrea Ganna, Mark Chaffin, Amit V. Khera, Wei Zhou, Jonathan M. Bloom, J Engreitz, Jason Ernst, Jeffrey R. O’Connell, Sanni Ruotsalainen, Maris Alver, Ani Manichaikul, W. Craig Johnson, James A. Perry, Timothy Poterba, Cotton Seed, Ida Surakka, Tõnu Esko, Samuli Ripatti, Veikko Salomaa, Adolfo Correa, Ramachandran S. Vasan, Manolis Kellis, Benjamin M. Neale, Eric S. Lander, Gonçalo R. Abecasis, Braxton D. Mitchell, Stephen S. Rich, James G. Wilson, L. Adrienne Cupples, Jerome I. Rotter, Cristen J. Willer, Sekar Kathiresan, Namiko Abe, Christine M. Albert, Nicholette Palmer Allred, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan E. Arking, Donna K. Arnett, Allison E. Ashley‐Koch, Stella Aslibekyan, Tim Assimes, Paul L. Auer, Dimitrios Avramopoulos, J. A. Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Terri H. Beaty, Diane M. Becker, Lewis C. Becker, Rebecca Beer, Ferdouse Begum, Amber L. Beitelshees, Emelia Benjamin, Marcos Bezerra, Larry Bielak, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Ingrid B. Borecki, Russell P. Bowler, Jennifer A. Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Esteban Burchard, Jonathan Cardwell, Cara L. Carty, Richard Casaburi, James F. Casella, Christy Chang, Daniel I. Chasman, Sameer Chavan, Bo-Juen Chen, Wei‐Min Chen, Yii-Der Ida Chen, Michael H. Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Elaine Cornell, Carolyn Crandall, James D. Crapo, Joanne E. Curran, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sayantan Das (2018). Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. , 9(1), DOI: https://doi.org/10.1038/s41467-018-05747-8.
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Type
Article
Year
2018
Authors
99
Datasets
0
Total Files
0
Language
en
DOI
https://doi.org/10.1038/s41467-018-05747-8
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