ArticleAmerican journal of human genetics2024
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
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Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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34citing papers in PubMed, 3 pooled it
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.Nature genetics · 2026Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- A large meta-analysis identifies genes associated with anterior uveitis.Nature communications · 2023Pooled it
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- Biobank-scale genotype similarity search and dynamic patient-matched cohort creation with GenoSiS.Genome research · 2026Article
- Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals.medRxiv : the preprint server for health sciences · 2026Article
- The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity.Nature communications · 2026Article
- Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women.Research square · 2025Article
- Population Prevalence of the Major Thyroid Cancer-Associated Syndromes.The Journal of clinical endocrinology and metabolism · 2025Article
- Polygenic risk score for type 2 diabetes shows context-dependent effects across populations.Nature communications · 2025Article
- Progress in Pharmacogenomics Implementation in the United States: Barrier Erosion and Remaining Challenges.Clinical pharmacology and therapeutics · 2025Review
- Modeling the genomic architecture of adiposity and anthropometrics across the lifespan.Nature communications · 2025Article
- Enabling reproducible type 1 diabetes polygenic risk scoring for clinical and translational applications.medRxiv : the preprint server for health sciences · 2025Article
- Expanding scope of genetic studies in the era of biobanks.Human molecular genetics · 2025Article
- Prevalence of Actionable Exposures to Pharmacogenetic Medications Among Solid Organ Transplant Recipients in a Population-Scale Biobank.Journal of personalized medicine · 2025Article
- Pharmacogenomics of chemotherapy induced peripheral neuropathy using an electronic health record-derived definition: a genome-wide association study.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2025Article
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 2025Article
- Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height.NPJ genomic medicine · 2025Article
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Authors and funding
47 authors.
Laura K WileyColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Jonathan A ShorttColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Emily R RobertsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Jan LoweryColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; University of Colorado Cancer Center, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Community and Behavioral Health, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Elizabeth KudronColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Meng LinColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
David MayerColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Melissa WilsonColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Tonya M BrunettiColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Sameer ChavanColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Tzu L PhangColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Nikita PozdeyevColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Joseph LesnyColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Stephen J WicksColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Ethan T MooreColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Joshua L MorgensternColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Alanna N RoffColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Elise L ShalowitzColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Adrian StewartColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Cole WilliamsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Michelle N EdelmannColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Madelyne HullColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
J Tacker PattonColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Lisen AxellCU Cancer Center, Hereditary Cancer Clinic, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Lisa KuCU Cancer Center, Hereditary Cancer Clinic, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Yee Ming LeeColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Clinical Pharmacy, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Jean JirikowicUCHealth, Aurora, CO 80045, USA.
Anna TanakaUCHealth, Aurora, CO 80045, USA.
Emily ToddColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; UCHealth, Aurora, CO 80045, USA.
Sarah WhiteUCHealth, Aurora, CO 80045, USA.
Brett PetersonColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Emily HearstUCHealth, Aurora, CO 80045, USA.
Richard ZaneUCHealth, Aurora, CO 80045, USA; University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Casey S GreeneColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Rasika MathiasColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Marilyn CoorsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Matthew TaylorColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Division of Cardiology, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Debashis GhoshDepartment of Biostatistics and Informatics, Colorado School of Public Health, Aurora, CO 80045, USA.
Michael G KahnColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Ian M BrooksColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Christina L AquilanteColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pharmaceutical Sciences, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
David KaoColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Division of Cardiology, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; CARE Innovation Center, UCHealth, Aurora, CO 80045, USA.
Nicholas RafaelsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Kristy R CrooksColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pathology, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Steve HessUCHealth, Aurora, CO 80045, USA.
Kathleen C BarnesColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: kathleen.barnes@cuanschutz.edu.
Christopher R GignouxColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: chris.gignoux@cuanschutz.edu.
Funding
Immune Tolerance Network UM1 2023 SupplementUM1AI109565 · NIAID · BENAROYA RESEARCH INST AT VIRGINIA MASON · PI Mark S Anderson, Jane Hoyt Buckner · 2014 to 2026
$451.6MNIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1MColorado Clinical and Translational Sciences Institute (CCTSI)UM1TR004399 · NCATS · UNIVERSITY OF COLORADO DENVER · PI JANINE A HIGGINS, RONALD J. SOKOL · 2023 to 2026
$30.7MTargeted Microbiome Transplant in Atopic DermatitisU19AI117673 · NIAID · NATIONAL JEWISH HEALTH · PI GEHA, RAIF SALIM · 2015 to 2019
$30.6MNew Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1MPolygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3MPRS Center for Admixed Populations (CAPE)U01HG011715 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Eimear Elizabeth Kenny, Leslie A Lange · 2021 to 2026
$5.2MMulti-omic studies of asthma severity in an African ancestry populationR01AI132476 · NIAID · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, MATHIAS, RASIKA ANN · 2018 to 2022
$3.5MPRIDE Academy: Impact of Ancestry and Gender to omics of lung diseasesR25HL146166 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI Matthew Wayne DeCamp, Sonia Castro Flores · 2019 to 2026
$3.4MNetwork-based algorithms for target identification and drug repositioning from genetic associationsR01HG010067 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI GREENE, CASEY S · 2018 to 2022
$3.2MGenomic Approaches to Population Health in Multi-Ethnic Hospital SystemsR01HG011345 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI ARBOLEDA, VALERIE A, GIGNOUX, CHRISTOPHER R · 2020 to 2023
$3.1MClinical Evidence Generation from Electronic Health Records for Precision MedicineK01LM013088 · NLM · UNIVERSITY OF COLORADO DENVER · PI WILEY, LAURA KATHERINE · 2019 to 2021
$533kNCATS NIH HHS UL1 TR002535NCATS NIH HHS UM1 TR004399NHGRI NIH HHS R01 HG010067NHGRI NIH HHS R01 HG011345NHGRI NIH HHS U01 HG011715NHLBI NIH HHS R01 HL104608NHLBI NIH HHS R01 HL151152NHLBI NIH HHS R25 HL146166NIAID NIH HHS R01 AI132476NIAID NIH HHS U19 AI117673NIAID NIH HHS UM1 AI109565NLM NIH HHS K01 LM013088
Abstract
Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct benefit to patients. We describe the biobank at the Colorado Center for Personalized Medicine (CCPM Biobank) that was jointly developed by the University of Colorado Anschutz Medical Campus and UCHealth to serve as a unique, dual-purpose research and clinical resource accelerating personalized medicine. This living resource currently has more than 200,000 participants with ongoing recruitment. We highlight the clinical, laboratory, regulatory, and HIPAA-compliant informatics infrastructure along with our stakeholder engagement, consent, recontact, and participant engagement strategies. We characterize aspects of genetic and geographic diversity unique to the Rocky Mountain region, the primary catchment area for CCPM Biobank participants. We leverage linked health and demographic information of the CCPM Biobank participant population to demonstrate the utility of the CCPM Biobank to replicate complex trait associations in the first 33,674 genotyped individuals across multiple disease domains. Finally, we describe our current efforts toward return of clinical genetic test results, including high-impact pathogenic variants and pharmacogenetic information, and our broader goals as the CCPM Biobank continues to grow. Bringing clinical and research interests together fosters unique clinical and translational questions that can be addressed from the large EHR-linked CCPM Biobank resource within a HIPAA- and CLIA-certified environment.
Indexed as
Learning Health SystemPrecision MedicineBiological Specimen BanksColoradoGenomicsHumansbiobankingelectronic health recordslearning health systempharmacogenomicsprecision medicine
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