Published May 11, 2018 | Version v1

QTL lead variants

Authors/Creators

  • 1. University of Tartu

Description

These are the standard QTLtools (https://qtltools.github.io/qtltools/) output files with the following column names:

  1. The phenotype group ID (here a gene ID)
  2. The chromosome ID of the phenotype group
  3. The start position of the phenotype group
  4. The end position of the phenotype group
  5. The strand orientation of the phenotype group
  6. The top phenotype in the group (here an exon ID)
  7. The total number of phenotypes in the group (i.e. #exons)
  8. The total number of variants tested in cis
  9. The distance between the phenotype group and the tested variant (accounting for strand orientation)
  10. The ID of the top variant
  11. The chromosome ID of the top variant
  12. The start position of the top variant
  13. The end position of the top variant
  14. The number of degrees of freedom used to compute the P-values
  15. Dummy
  16. The first parameter value of the fitted beta distribution
  17. The second parameter value of the fitted beta distribution (it also gives the effective number of independent tests in the region)
  18. The nominal P-value of association between the top phenotype and the top variant in cis
  19. The corresponding regression slope
  20. The P-value of association adjusted for the number of variants and phenotypes tested in cis given by the direct method (i.e. empirircal P-value)
  21. The P-value of association adjusted for the number of variants and phenotypes tested in cis given by the fitted beta distribution. We strongly recommend to use this adjusted P-value in any downstream analysis

I prefer to use the following short column names

  1. group_id
  2. pheno_chr
  3. pheno_start
  4. pheno_end
  5. strand
  6. phenotype_id
  7. group_size
  8. n_cis_snps
  9. distance
  10. snp_id
  11. snp_chr
  12. snp_start
  13. snp_end
  14. df
  15. dummy
  16. beta1
  17. beta2
  18. p_nominal
  19. slope
  20. p_perm
  21. p_beta

 

Files

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