The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients

被引：45

作者：

Zawistowski, Matthew ^{[1
,2
]}

Fritsche, Lars G. ^{[1
,2
]}

Pandit, Anita ^{[1
,2
]}

Vanderwerff, Brett ^{[1
,2
]}

Patil, Snehal ^{[1
,2
]}

Schmidt, Ellen M. ^{[1
,2
]}

VandeHaar, Peter ^{[1
,2
]}

Willer, Cristen J. ^{[3
]}

Brummett, Chad M. ^{[4
]}

Kheterpal, Sachin ^{[4
]}

Zhou, Xiang ^{[1
,2
]}

Boehnke, Michael ^{[1
,2
]}

Abecasis, Goncalo R. ^{[1
,2
,5
]}

Zollner, Sebastian ^{[1
,2
,6
]}

机构：

[1] Univ Michigan, Dept Biostat, Ann Arbor, MI 48103 USA

[2] Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48103 USA

[3] Univ Michigan, Dept Internal Med, Dept Human Genet, Div Cardiovasc Med, Ann Arbor, MI 48103 USA

[4] Univ Michigan, Dept Anesthesiol, Ann Arbor, MI 48103 USA

[5] Regeneron Genet Ctr, Tarrytown, NY 10591 USA

[6] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48103 USA

来源：

CELL GENOMICS | 2023年 / 3卷 / 02期

关键词：

WIDE ASSOCIATION; DIVERSITY; VARIANTS; ANCESTRY; PATTERNS; RISK; LOCI;

D O I：

10.1016/j.xgen.2023.100257

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Biobanks of linked clinical patient histories and biological samples are an efficient strategy to generate large cohorts for modern genetics research. Biobank recruitment varies by factors such as geographic catchment and sampling strategy, which affect biobank demographics and research utility. Here, we describe the Michigan Genomics Initiative (MGI), a single-health-system biobank currently consisting of >91,000 participants recruited primarily during surgical encounters at Michigan Medicine. The surgical enrollment results in a biobank enriched for many diseases and ideally suited for a disease genetics cohort. Compared with the much larger population-based UK Biobank, MGI has higher prevalence for nearly all diagnosis-code-based phenotypes and larger absolute case counts for many phenotypes. Genome-wide association study (GWAS) results replicate known findings, thereby validating the genetic and clinical data. Our results illustrate that opportunistic biobank sampling within single health systems provides a unique and complementary resource for exploring the genetics of complex diseases.

引用

页数：16

共 56 条

[1] FlashPCA2: principal component analysis of Biobank-scale genotype datasets [J].

Abraham, Gad ;

Qiu, Yixuan ;

Inouye, Michael .

BIOINFORMATICS, 2017, 33 (17) :2776-2778

[2] Fast model-based estimation of ancestry in unrelated individuals [J].

Alexander, David H. ;

Novembre, John ;

Lange, Kenneth .

GENOME RESEARCH, 2009, 19 (09) :1655-1664

[3] The "All of Us" Research Program [J].

Denny J.C. ;

Rutter J.L. ;

Goldstein D.B. ;

Philippakis A. ;

Smoller J.W. ;

Jenkins G. ;

Dishman E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2019, 381 (07) :668-676

[4]

Annis A., 2021, False Discovery Rates for Genome-wide Association Tests in Biobanks with Thousands of Phenotypes, DOI [10.21203/rs.3.rs-873449/v1, DOI 10.21203/RS.3.RS-873449/V1]

[5] World Medical Association Declaration of Helsinki Ethical Principles for Medical Research Involving Human Subjects [J].

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2013, 310 (20) :2191-2194

[6]

[Anonymous], 2021, VCV000007105.43-ClinVar-NCBI

[7] The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities [J].

Beesley, Lauren J. ;

Salvatore, Maxwell ;

Fritsche, Lars G. ;

Pandit, Anita ;

Rao, Arvind ;

Brummett, Chad ;

Willer, Cristen J. ;

Lisabeth, Lynda D. ;

Mukherjee, Bhramar .

STATISTICS IN MEDICINE, 2020, 39 (06) :773-800

[8] Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels [J].

Bielinski, Suzette J. ;

Chai, High Seng ;

Pathak, Jyotishman ;

Talwalkar, Jayant A. ;

Limburg, Paul J. ;

Gullerud, Rachel E. ;

Sicotte, Hugues ;

Klee, Eric W. ;

Ross, Jason L. ;

Kocher, Jean-Pierre A. ;

Kullo, Iftikhar J. ;

Heit, John A. ;

Petersen, Gloria M. ;

de Andrade, Mariza ;

Chute, Christopher G. .

MAYO CLINIC PROCEEDINGS, 2011, 86 (07) :606-614

[9] Genome-wide patterns of population structure and admixture among Hispanic/Latino populations [J].

Bryc, Katarzyna ;

Velez, Christopher ;

Karafet, Tatiana ;

Moreno-Estrada, Andres ;

Reynolds, Andy ;

Auton, Adam ;

Hammer, Michael ;

Bustamante, Carlos D. ;

Ostrer, Harry .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 :8954-8961

[10] The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 [J].

Buniello, Annalisa ;

MacArthur, Jacqueline A. L. ;

Cerezo, Maria ;

Harris, Laura W. ;

Hayhurst, James ;

Malangone, Cinzia ;

McMahon, Aoife ;

Morales, Joannella ;

Mountjoy, Edward ;

Sollis, Elliot ;

Suveges, Daniel ;

Vrousgou, Olga ;

Whetzel, Patricia L. ;

Amode, Ridwan ;

Guillen, Jose A. ;

Riat, Harpreet S. ;

Trevanion, Stephen J. ;

Hall, Peggy ;

Junkins, Heather ;

Flicek, Paul ;

Burdett, Tony ;

Hindorff, Lucia A. ;

Cunningham, Fiona ;

Parkinson, Helen .

NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D1005-D1012

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