Nature Communications (Dec 2022)
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
- Marsha M. Wheeler,
- Adrienne M. Stilp,
- Shuquan Rao,
- Bjarni V. Halldórsson,
- Doruk Beyter,
- Jia Wen,
- Anna V. Mihkaylova,
- Caitlin P. McHugh,
- John Lane,
- Min-Zhi Jiang,
- Laura M. Raffield,
- Goo Jun,
- Fritz J. Sedlazeck,
- Ginger Metcalf,
- Yao Yao,
- Joshua B. Bis,
- Nathalie Chami,
- Paul S. de Vries,
- Pinkal Desai,
- James S. Floyd,
- Yan Gao,
- Kai Kammers,
- Wonji Kim,
- Jee-Young Moon,
- Aakrosh Ratan,
- Lisa R. Yanek,
- Laura Almasy,
- Lewis C. Becker,
- John Blangero,
- Michael H. Cho,
- Joanne E. Curran,
- Myriam Fornage,
- Robert C. Kaplan,
- Joshua P. Lewis,
- Ruth J. F. Loos,
- Braxton D. Mitchell,
- Alanna C. Morrison,
- Michael Preuss,
- Bruce M. Psaty,
- Stephen S. Rich,
- Jerome I. Rotter,
- Hua Tang,
- Russell P. Tracy,
- Eric Boerwinkle,
- Goncalo R. Abecasis,
- Thomas W. Blackwell,
- Albert V. Smith,
- Andrew D. Johnson,
- Rasika A. Mathias,
- Deborah A. Nickerson,
- Matthew P. Conomos,
- Yun Li,
- Unnur Þorsteinsdóttir,
- Magnús K. Magnússon,
- Kari Stefansson,
- Nathan D. Pankratz,
- Daniel E. Bauer,
- Paul L. Auer,
- Alex P. Reiner
Affiliations
- Marsha M. Wheeler
- Department of Genome Sciences, University of Washington
- Adrienne M. Stilp
- Department of Biostatistics, University of Washington
- Shuquan Rao
- Division of Hematology/Oncology, Boston Children’s Hospital
- Bjarni V. Halldórsson
- deCODE genetics/Amgen Inc.
- Doruk Beyter
- deCODE genetics/Amgen Inc.
- Jia Wen
- Departments of Biostatistics, Genetics, Computer Science, Applied Physical Sciences, University of North Carolina at Chapel Hill
- Anna V. Mihkaylova
- Department of Biostatistics, University of Washington
- Caitlin P. McHugh
- Department of Biostatistics, University of Washington
- John Lane
- Department of Laboratory Medicine and Pathology, University of Minnesota Medical School
- Min-Zhi Jiang
- Departments of Biostatistics, Genetics, Computer Science, Applied Physical Sciences, University of North Carolina at Chapel Hill
- Laura M. Raffield
- Department of Genetics, University of North Carolina
- Goo Jun
- Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston
- Fritz J. Sedlazeck
- Human Genome Sequencing Center, Baylor College of Medicine
- Ginger Metcalf
- Human Genome Sequencing Center, Baylor College of Medicine
- Yao Yao
- Division of Hematology/Oncology, Boston Children’s Hospital
- Joshua B. Bis
- Cardiovascular Health Research Unit, Department of Medicine, University of Washington
- Nathalie Chami
- The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
- Paul S. de Vries
- Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston
- Pinkal Desai
- Division of Hematology and Oncology, Weill Cornell Medical College
- James S. Floyd
- Cardiovascular Health Research Unit, Department of Medicine, University of Washington
- Yan Gao
- Jackson Heart Study, Department of Medicine, University of Mississippi
- Kai Kammers
- GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine
- Wonji Kim
- Channing Division of Network Medicine, Brigham and Women’s Hospital
- Jee-Young Moon
- Department of Epidemiology and Population Health, Albert Einstein College of Medicine
- Aakrosh Ratan
- Center for Public Health Genomics, University of Virginia
- Lisa R. Yanek
- GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine
- Laura Almasy
- Children’s Hospital of Philadelphia and University of Pennsylvania School of Medicine
- Lewis C. Becker
- GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine
- John Blangero
- Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine
- Michael H. Cho
- Channing Division of Network Medicine, Brigham and Women’s Hospital
- Joanne E. Curran
- Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine
- Myriam Fornage
- Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston
- Robert C. Kaplan
- Department of Epidemiology and Population Health, Albert Einstein College of Medicine
- Joshua P. Lewis
- Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine
- Ruth J. F. Loos
- The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
- Braxton D. Mitchell
- Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine
- Alanna C. Morrison
- Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston
- Michael Preuss
- The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
- Bruce M. Psaty
- Cardiovascular Health Research Unit, Department of Medicine, University of Washington
- Stephen S. Rich
- Center for Public Health Genomics, University of Virginia
- Jerome I. Rotter
- The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
- Hua Tang
- Department of Genetics, Stanford University School of Medicine
- Russell P. Tracy
- Departments of Pathology & Laboratory Medicine and Biochemistry, Larner College of Medicine at the University of Vermont
- Eric Boerwinkle
- Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston
- Goncalo R. Abecasis
- TOPMed Informatics Research Center, University of Michigan, Department of Biostatistics
- Thomas W. Blackwell
- TOPMed Informatics Research Center, University of Michigan, Department of Biostatistics
- Albert V. Smith
- TOPMed Informatics Research Center, University of Michigan, Department of Biostatistics
- Andrew D. Johnson
- Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute
- Rasika A. Mathias
- GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine
- Deborah A. Nickerson
- Department of Genome Sciences, University of Washington
- Matthew P. Conomos
- Department of Biostatistics, University of Washington
- Yun Li
- Departments of Biostatistics, Genetics, Computer Science, Applied Physical Sciences, University of North Carolina at Chapel Hill
- Unnur Þorsteinsdóttir
- deCODE genetics/Amgen Inc.
- Magnús K. Magnússon
- deCODE genetics/Amgen Inc.
- Kari Stefansson
- deCODE genetics/Amgen Inc.
- Nathan D. Pankratz
- Department of Laboratory Medicine and Pathology, University of Minnesota Medical School
- Daniel E. Bauer
- Division of Hematology/Oncology, Boston Children’s Hospital
- Paul L. Auer
- Division of Biostatistics, Institute for Health and Equity, and Cancer Center, Medical College of Wisconsin
- Alex P. Reiner
- Department of Epidemiology, University of Washington
- DOI
- https://doi.org/10.1038/s41467-022-35354-7
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 18
Abstract
Most genetic association studies have been done on single nucleotide polymorphisms and small indels, while other types of variants have been less studied. Here, the authors use whole genome sequencing in a diverse population to identify and provide experimental evidence for associations between structural variants and blood-cell traits.
