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The Capital Region of Denmark - a part of Copenhagen University Hospital
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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  1. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

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  2. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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  3. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

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  4. Human Disease Variation in the Light of Population Genomics

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  5. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

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  1. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Cardiac Troponin I and Incident Stroke in European Cohorts: Insights From the BiomarCaRE Project

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  3. Evaluation of Serum Insulin-like Factor 3 Quantification by LC-MS/MS as a Biomarker of Leydig Cell Function

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  4. Does Estimated Pulse Wave Velocity Add Prognostic Information? MORGAM Prospective Cohort Project

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Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.

Original languageEnglish
JournalCell
Volume182
Issue number5
Pages (from-to)1214-1231.e11
ISSN0092-8674
DOIs
Publication statusPublished - 3 Sep 2020

ID: 60818669