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Hail is an Open-source, scalable framework for exploring and analyzing genetic data. Starting from DNA sequencing or Microarray data in VCF and other formats, Hail can, for example:

  • generate variant annotations like call rate, Hardy-Weinberg equilibrium p-value, and population-specific allele count
  • generate sample annotations like mean depth, imputed sex, and TiTv ratio
  • load variant and sample annotations from text tables, JSON, VCF, VEP, and locus interval files
  • produce new annotations computed from existing annotations and the genotypes, and use these to filter samples, variants, and genotypes
  • compute sample scores and variant loadings using PCA, or project your cohort onto ancestry coordinates of reference datasets
  • perform association analyses with phenotypes and covariates using Linear regression and Logistic regression

Broad Institute에서 Spark으로 만들었다고.

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