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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001694PMC
http://dx.doi.org/10.1002/mpr.1608DOI Listing

Publication Analysis

Top Keywords

genome-wide association
8
association studies
8
gwas
5
tutorial conducting
4
conducting genome-wide
4
studies quality
4
quality control
4
control statistical
4
statistical analysis
4
analysis objectives
4

Similar Publications

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 PDF

An InDel variant in the promoter of the NAC transcription factor MdNAC18.1 plays a major role in apple fruit ripening.

Plant 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 PDF

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 PDF

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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!