Objectives: Genome-wide association studies (GWAS) have become increasingly popular to identify associations between single nucleotide polymorphisms (SNPs) and phenotypic traits. The GWAS method is commonly applied within the social sciences. However, statistical analyses will need to be carefully conducted and the use of dedicated genetics software will be required. This tutorial aims to provide a guideline for conducting genetic analyses.
Methods: We discuss and explain key concepts and illustrate how to conduct GWAS using example scripts provided through GitHub (https://github.com/MareesAT/GWA_tutorial/). In addition to the illustration of standard GWAS, we will also show how to apply polygenic risk score (PRS) analysis. PRS does not aim to identify individual SNPs but aggregates information from SNPs across the genome in order to provide individual-level scores of genetic risk.
Results: The simulated data and scripts that will be illustrated in the current tutorial provide hands-on practice with genetic analyses. The scripts are based on PLINK, PRSice, and R, which are commonly used, freely available software tools that are accessible for novice users.
Conclusions: By providing theoretical background and hands-on experience, we aim to make GWAS more accessible to researchers without formal training in the field.
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http://dx.doi.org/10.1002/mpr.1608 | DOI Listing |
Planta
January 2025
Department of Plant Sciences, University of the Free State, Bloemfontein, South Africa.
Sorghum kernel composition is a crucial characteristic that determines its functional qualities. The total protein content of sorghum grain increases under drought stress, but starch, protein digestibility, and micronutrient contents decrease. Sorghum (Sorghum bicolor L.
View Article and Find Full Text PDFPlant Cell
December 2024
Shenzhen Research Institute, State Key Laboratory for Crop Stress Resistance and High-Efficiency Production/Shaanxi Key Laboratory of Apple, College of Horticulture, Northwest A&F University, Yangling 712100, China.
A complex regulatory network governs fruit ripening, but natural variations and functional differentiation of fruit ripening genes remain largely unknown. Utilizing a genome-wide association study (GWAS), we identified the NAC family transcription factor MdNAC18.1, whose expression is closely associated with fruit ripening in apple (Malus × domestica Borkh.
View Article and Find Full Text PDFCarcinogenesis
January 2025
Department of Environmental Sciences and Engineering, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA.
Endometrial cancer [EC] is the fourth most common cancer in women in the United States. Stark racial disparities are present in EC outcomes in which Black women have significantly higher EC-related mortality than White women. The social and biologic factors that contribute to these disparities are complex, and may include racial differences in epigenetic landscapes.
View Article and Find Full Text PDFG3 (Bethesda)
January 2025
Department of Integrative Biology, University of California at Berkeley, Berkeley, CA 94720, USA.
Atahualpa is a rural village located in coastal Ecuador, a region that has been inhabited by people as early as 10,000 years ago. The traditional diet of their indigenous inhabitants is rich in oily fish and they have, therefore, served as a model for investigating the beneficial effects of such a diet. However, the genetic background of this population has not been studied.
View Article and Find Full Text PDFJ Dent Sci
January 2025
Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Background/purpose: Orofacial pain is common in dental practices. This study aimed to explore relationships between orofacial pain and sleep using the UK Biobank dataset and, based on epidemiological associations, to investigate the causal association using genome-wide association studies data.
Materials And Methods: First, a cross-sectional study was conducted with 196,490 participants from UK Biobank.
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