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.

관련정보

• Hail을 이용한 1Tb VCF 요리법 2016-11-21

Incoming Links #

Related Articles (Article 0) #

• SNV

Suggested Pages #

• 0.078 CaVEMan
• 0.072 SnpEff
• 0.071 Genetic variation
• 0.070 SNP
• 0.062 원추세포의 색 인식과 인간의 진화
• 0.048 Oncotator: cancer variant annotation tool
• 0.048 Comparison of custom capture for targeted next-generation DNA sequencing
• 0.046 Kaviar
• 0.039 dbNSFP
• 0.031 Genotyping by sequencing
• More suggestions...