Rare variant contribution to the heritability of coronary artery disease

Autor: Ghislain Rocheleau, Shoa L. Clarke, Gaëlle Auguste, Natalie R. Hasbani, Alanna C. Morrison, Adam S. Heath, Lawrence F. Bielak, Kruthika R. Iyer, Erica P. Young, Nathan O. Stitziel, Goo Jun, Cecelia Laurie, Jai G. Broome, Alyna T. Khan, Donna K. Arnett, Lewis C. Becker, Joshua C. Bis, Eric Boerwinkle, Donald W. Bowden, April P. Carson, Patrick T. Ellinor, Myriam Fornage, Nora Franceschini, Barry I. Freedman, Nancy L. Heard-Costa, Lifang Hou, Yii-Der Ida Chen, Eimear E. Kenny, Charles Kooperberg, Brian G. Kral, Ruth J. F. Loos, Sharon M. Lutz, JoAnn E. Manson, Lisa W. Martin, Braxton D. Mitchell, Rami Nassir, Nicholette D. Palmer, Wendy S. Post, Michael H. Preuss, Bruce M. Psaty, Laura M. Raffield, Elizabeth A. Regan, Stephen S. Rich, Jennifer A. Smith, Kent D. Taylor, Lisa R. Yanek, Kendra A. Young, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Austin T. Hilliard, Catherine Tcheandjieu, Patricia A. Peyser, Ramachandran S. Vasan, Jerome I. Rotter, Clint L. Miller, Themistocles L. Assimes, Paul S. de Vries, Ron Do

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Abstract Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To measure their contribution, we apply the GREML-LDMS-I approach to WGS of 4949 cases and 17,494 c

Externí odkaz: https://doaj.org/article/06f5575dd28f4c74ac4e7a972d07a02f

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes

Autor: Rebecca Keener, Surya B. Chhetri, Carla J. Connelly, Margaret A. Taub, Matthew P. Conomos, Joshua Weinstock, Bohan Ni, Benjamin Strober, Stella Aslibekyan, Paul L. Auer, Lucas Barwick, Lewis C. Becker, John Blangero, Eugene R. Bleecker, Jennifer A. Brody, Brian E. Cade, Juan C. Celedon, Yi-Cheng Chang, L. Adrienne Cupples, Brian Custer, Barry I. Freedman, Mark T. Gladwin, Susan R. Heckbert, Lifang Hou, Marguerite R. Irvin, Carmen R. Isasi, Jill M. Johnsen, Eimear E. Kenny, Charles Kooperberg, Ryan L. Minster, Take Naseri, Satupa’itea Viali, Sergei Nekhai, Nathan Pankratz, Patricia A. Peyser, Kent D. Taylor, Marilyn J. Telen, Baojun Wu, Lisa R. Yanek, Ivana V. Yang, Christine Albert, Donna K. Arnett, Allison E. Ashley-Koch, Kathleen C. Barnes, Joshua C. Bis, Thomas W. Blackwell, Eric Boerwinkle, Esteban G. Burchard, April P. Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T. Ellinor, Myriam Fornage, Bruce D. Gelb, Frank D. Gilliland, Jiang He, Talat Islam, Stefan Kaab, Sharon L. R. Kardia, Shannon Kelly, Barbara A. Konkle, Rajesh Kumar, Ruth J. F. Loos, Fernando D. Martinez, Stephen T. McGarvey, Deborah A. Meyers, Braxton D. Mitchell, Courtney G. Montgomery, Kari E. North, Nicholette D. Palmer, Juan M. Peralta, Benjamin A. Raby, Susan Redline, Stephen S. Rich, Dan Roden, Jerome I. Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M. Benjamin Shoemaker, Edwin K. Silverman, Moritz F. Sinner, Nicholas L. Smith, Albert V. Smith, Hemant K. Tiwari, Ramachandran S. Vasan, Scott T. Weiss, L. Keoki Williams, Yingze Zhang, Elad Ziv, Laura M. Raffield, Alexander P. Reiner, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group, Marios Arvanitis, Carol W. Greider, Rasika A. Mathias, Alexis Battle

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Abstract Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a

Externí odkaz: https://doaj.org/article/3e293e6c932a4a42b553d789d690044b

Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations

Autor: Elena V. Feofanova, Michael R. Brown, Taryn Alkis, Astrid M. Manuel, Xihao Li, Usman A. Tahir, Zilin Li, Kevin M. Mendez, Rachel S. Kelly, Qibin Qi, Han Chen, Martin G. Larson, Rozenn N. Lemaitre, Alanna C. Morrison, Charles Grieser, Kari E. Wong, Robert E. Gerszten, Zhongming Zhao, Jessica Lasky-Su, NHLBI Trans-Omics for Precision Medicine (TOPMed), Bing Yu

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)

Abstract Circulating metabolite levels may reflect the state of the human organism in health and disease, however, the genetic architecture of metabolites is not fully understood. We have performed a whole-genome sequencing association analysis of bo

Externí odkaz: https://doaj.org/article/fd8c3eb176234d4c8fc8bb86a09934a5

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

Autor: Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Akhil Pampana, David Y. Zhang, Joseph Park, Stella Aslibekyan, Joshua C. Bis, Jennifer A. Brody, Brian E. Cade, Lee-Ming Chuang, Ren-Hua Chung, Joanne E. Curran, Lisa de las Fuentes, Paul S. de Vries, Ravindranath Duggirala, Barry I. Freedman, Mariaelisa Graff, Xiuqing Guo, Nancy Heard-Costa, Bertha Hidalgo, Chii-Min Hwu, Marguerite R. Irvin, Tanika N. Kelly, Brian G. Kral, Leslie Lange, Xiaohui Li, Martin Lisa, Steven A. Lubitz, Ani W. Manichaikul, Preuss Michael, May E. Montasser, Alanna C. Morrison, Take Naseri, Jeffrey R. O’Connell, Nicholette D. Palmer, Patricia A. Peyser, Muagututia S. Reupena, Jennifer A. Smith, Xiao Sun, Kent D. Taylor, Russell P. Tracy, Michael Y. Tsai, Zhe Wang, Yuxuan Wang, Wei Bao, John T. Wilkins, Lisa R. Yanek, Wei Zhao, Donna K. Arnett, John Blangero, Eric Boerwinkle, Donald W. Bowden, Yii-Der Ida Chen, Adolfo Correa, L. Adrienne Cupples, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Jiang He, Robert C. Kaplan, Sharon L. R. Kardia, Ryan Kim, Charles Kooperberg, Ruth J. F. Loos, Karine A Viaud-Martinez, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, Deborah Nickerson, Kari E. North, Bruce M. Psaty, Susan Redline, Alexander P. Reiner, Ramachandran S. Vasan, Stephen S. Rich, Cristen Willer, Jerome I. Rotter, Daniel J. Rader, Xihong Lin, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Gina M. Peloso, Pradeep Natarajan

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Although the common genetic variants contributing to blood lipid levels have been studied, the contribution of rare variants is less understood. Here, the authors perform a rare coding and noncoding variant association study of blood lipid levels usi

Externí odkaz: https://doaj.org/article/6a6fd2ae2e2e4c998f1a649ed991ac74

GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing

Autor: Ravi Mathur, Fang Fang, Nathan Gaddis, Dana B. Hancock, Michael H. Cho, John E. Hokanson, Laura J. Bierut, Sharon M. Lutz, Kendra Young, Albert V. Smith, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Edwin K. Silverman, Grier P. Page, Eric O. Johnson

Publikováno v: Communications Biology, Vol 5, Iss 1, Pp 1-9 (2022)

GAWMerge is a computational tool that allows users to integrate SNP genotyping data from array techniques or whole-genome sequencing, providing a feasible method to leverage existing cohorts to increase sample size in genetic studies.

Externí odkaz: https://doaj.org/article/0ca1f1a607004384bdf4ce1cd35b80e5