Sex-specific Mendelian randomization phenome-wide association study of basal metabolic rate [PDF]
Scientific ReportsObservationally, higher basal metabolic rate (BMR) is associated with metabolism-related disorders, cancer, aging, and mortality. In this Mendelian randomization (MR) phenome-wide association study, using two-sample MR methods, we systematically and ...
Jack C. M. Ng, C. Mary Schooling
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Phenome-wide association study on miRNA-related sequence variants: the UK Biobank [PDF]
Human Genomics, 2023 Background Genetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. However, the importance of variants in the non-coding region, such as microRNAs (miRNAs), remain to be elucidated.
Rima Mustafa +4 more
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Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone [PDF]
BMC Medicine, 2023 Background Endometriosis affects 1 in 9 women, yet it is poorly understood with long diagnostic delays, invasive diagnoses, and poor treatment outcomes. Characterised by the presence of endometrial-like tissue outside of the uterus, its main symptoms are
Isabelle M. McGrath +3 more
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Air pollution and human health: a phenome-wide association study [PDF]
BMJ OpenObjectives To explore the associations of long-term exposure to air pollution with onset of all human health conditions.Design Prospective phenome-wide association study.Setting Denmark.Participants All Danish residents aged ≥30 years on 1 January 2000 ...
Laust Hvas Mortensen +8 more
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A sex-specific Mendelian randomization-phenome-wide association study of body mass index [PDF]
eLifeBackground: Trials of incretins are making it increasingly clear that body mass index (BMI) is linked to several diseases throughout life, but trials cannot easily provide a comprehensive assessment of the role of BMI in health-related attributes for men
Zhu Liduzi Jiesisibieke +3 more
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Comprehensive analysis of genetic associations and single-cell expression profiles reveals potential links between migraine and multiple diseases: a phenome-wide association study [PDF]
Frontiers in NeurologyMigraine is a common neurological disorder that affects more than one billion people worldwide. Recent genome-wide association studies have identified 123 genetic loci associated with migraine risk.
Di Ouyang +7 more
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A phenome-wide association study of polygenic scores for selected childhood cancer: Results from the UK Biobank [PDF]
HGG AdvancesSummary: The aim of this study was to scan phenotypes in adulthood associated with polygenic risk scores (PRS) for childhood cancers with well-articulated genetic architectures—acute lymphoblastic leukemia (ALL), Ewing sarcoma, and neuroblastoma—to ...
Eun Mi Jung +3 more
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Phenome‐Wide Association Study of Severe COVID‐19 Genetic Risk Variants [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022 Jessica A. Regan +6 more
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Identification of Druggable Genes for Asthma by Integrated Genomic Network Analysis
Biomedicines, 2022 Asthma is a common and heterogeneous disease characterized by chronic airway inflammation. Currently, the two main types of asthma medicines are inhaled corticosteroids and long-acting β2-adrenoceptor agonists (LABAs).
Wirawan Adikusuma +7 more
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How data science and AI-based technologies impact genomics
Singapore Medical Journal, 2023 Advancements in high-throughput sequencing have yielded vast amounts of genomic data, which are studied using genome-wide association study (GWAS)/phenome-wide association study (PheWAS) methods to identify associations between the genotype and phenotype.
Jing Lin, Kee Yuan Ngiam
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