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  • GWAS state-of-the-art how-to?

    Dear all,

    Newbie here - So I have embarked on a new journey to the land of GWAS! This means that I now have a plethora of file formats and software tools, that I'll need to absorb. I am hoping for some input from the more experienced SEQanswer users

    For a set of samples, we have used Illumina's Infinium OmniExpressExome-8 BeadChip Kit [1] for snp genotyping. We have then used the Michigan Imputation Server [2] to impute full genotypes. Based on the full genotypes, we wish to run a GWAS against a binary variable using SNPTEST (v2.5.2) [3]

    Steps
    A) Filter the imputed vcf file [4]
    B) Create Genotype file for SNPTest
    C) Create Sample file for SNPTest, adjusting for sex
    D) Run SNPTest using -pheno -frequentist -method score

    Questions
    i. Reg. A) what should I filter on using which tool? MAF >= 0.05 and R2 >= ?
    ii. Reg. B) I could write a script, but tools for doing this must exist?
    iii. Can you recommend a good GWAS-tutorial?

    ...and naturally any input/comments you may have are very welcome - Thank you!

    Links
    1. Infinium OmniExpressExome-8 BeadChip Kit
    2. Michigan Imputation Server
    Software: Minimac3
    Reference Panel: 1000G Phase 1 v3 Shapeit2 (no singletons)
    Phasing: Eagle (phased output)
    Population: EUR
    mode: quality control & imputation
    3. SNPTest
    4.
    Code:
    #CHROM  POS       ID           REF       ALT  QUAL  FILTER  INFO                    FORMAT    ID
    21      9411243   21:9411243   A         C    .     PASS    MAF=0.00412;R2=0.00000  GT:DS:GP  0|0:0.008:0.992,0.008,0.000
    21      9825566   21:9825566   CCCGCCCG  C    .     PASS    MAF=0.04991;R2=0.00000  GT:DS:GP  0|0:0.100:0.903,0.095,0.002
    21      14702903  21:14702903  ATATATAT  A    .     PASS    MAF=0.46526;R2=0.73793  GT:DS:GP  1|0:0.894:0.108,0.890,0.002

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