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Structured data


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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