Published January 27, 2025 | Version v4.1
Software Open

rgcgithub/regenie: Regenie v4.1

  • 1. Regeneron Genetics Center
  • 2. NTNU | HUNT Cloud
  • 3. @google

Description

  • Timing reduction for single variant association tests in step 2 with hard-call genotype data (e.g. WES/WGS). <img width="490" alt="image" src="https://github.com/user-attachments/assets/52bccb2c-24bc-490a-b306-11737d9e6b67" />

  • New option --weights-col to specify custom weights to use in gene-based tests (see doc for details)

  • New option --htp to output summary statistics in the HTP format which is used by the remeta software

    • By default, p-values are capped at 2.2E-307. To avoid this, use --exact-p.
  • New option --skip-dosage-comp to skip dosage compensation for males in non-PAR chrX regions

    • By default, REGENIE assumes males are coded as 0/2 in the non-PAR regions of the genotype file
    • With this option, male genotypes (or dosages) will be divided by 2 in non-PAR regions (i.e. male genotypes will be on a [0,1] scale while females will be on a [0-2] scale)
  • Bug fix to skip non-burden tests when running GxE or GxG interaction tests

  • Bug fix for #579

  • Address convergence issue when fitting null model with Firth

  • Relax threshold used to check variance of tested SNPs after removing covariate effects

  • Check that none of the covariates are also specified as phenotypes (in which case they will be excluded from the covariate list)

Files

rgcgithub/regenie-v4.1.zip

Files (10.4 MB)

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Additional details

Related works

Is supplement to
Software: https://github.com/rgcgithub/regenie/tree/v4.1 (URL)

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