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GWASTic Documentation
  • 👋Welcome to GWAStic documentation
  • Overview
    • 💡Video Tutorials
    • ✨Features
  • Fundamentals
    • đŸ–Ĩī¸Installing GWAStic
    • đŸ–Ĩī¸Starting GWAStic
    • â†Ēī¸Converting VCF to BED files
    • 🔄GWAS Analysis
    • 🔄Genomic Prediction
    • Running from command line
    • Algorithms
    • Effect size and P-value
    • Train, Test, and Validation Sets
    • Settings
    • â„šī¸References
    • Version history
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  • Start GWAS Analysis
  • Manhatten Plot
  • Q-Q Plot
  • Advanced Output
  • Supported file formats
  • Genotypic Files
  • Phenotypic Files
  1. Fundamentals

GWAS Analysis

PreviousConverting VCF to BED filesNextGenomic Prediction

Last updated 7 months ago

Start GWAS Analysis

GWAS analysis interface

  1. Choose BED file: Click to select a BED file containing genotype data for Genome-wide association study (GWAS).

  2. Choose phenotype: Click to select a file with phenotype data that will be used in the GWAS analysis.

  3. Algorithm dropdown menu: Select the algorithm for GWAS.

  4. Run GWAS button: Initiate the GWAS process with the selected BED file, phenotype data, and algorithm.

Manhatten Plot

The Manhattan plot shows the association between genetic markers (SNPs) and the trait of interest. The x-axis represents the genomic position, while the y-axis displays the negative logarithm of the p-value for each SNP. Peaks identify genomic regions that are significantly associated with the trait, highlighting potential loci for further research.

Q-Q Plot

This quantile-quantile plot compares the distribution of observed p-values from the GWAS against the expected distribution under the null hypothesis. If no significant genetic associations are present, the points should align closely with a diagonal line. Deviations from the line suggest population stratification or true associations.

In the context of a Q-Q plot, particularly in genome-wide association studies (GWAS), the lambda (often referred to as the genomic inflation factor, or GIF) is a measure of the inflation of test statistics due to population stratification, technical artifacts, or other confounding factors:

Lambda < 1.05: Generally considered very good, indicating minimal inflation. Such values suggest that there is little to no unaccounted confounding or bias affecting the results.

Lambda between 1.05 and 1.10: Often acceptable, especially in large-scale studies involving complex traits where some degree of polygenicity and residual population structure can cause slight inflation.

Lambda > 1.10 but < 1.15: Mild inflation is indicated, prompting a review of data and methods. While this range is still often acceptable, it suggests that there might be factors such as subtle population stratification or model misspecification affecting the results.

Advanced Output

Supported file formats

Genotypic Files

VCF file format (including vcf.gz) and PLINK BED/BIM/FAM format are supported for all GWAS methods. The VCF files must converted to BED/BIM/FAM file format.

Phenotypic Files

Phenotypic data must be three columns text file delimited by space:

5837 5837 1
6009 6009 1
6898 6898 1
6900 6900 0
6901 6901 0
6903 6903 1
🔄
Manhatten plot
Q-Q Plot
Advanced genotypic data output
Advanced phenotypic data output
https://github.com/snowformatics/data/blob/cd8ac371fe669711430a6a4d7c00960082b3cd4b/gwastic_test_data/example.vcf.gz
VCF Example File
https://github.com/snowformatics/data/blob/cd8ac371fe669711430a6a4d7c00960082b3cd4b/gwastic_test_data/pheno.csv
Phenotype Example File