Overview

•  Study oriented
• Cohort definition

Study oriented

Cohort stats

VCF types

• Aggregated VCFs: Variant files with no sample specific values. Just aggregated data
• Merged VCFs: Variant files with a batch of samples with specific samples data.
• gVCFs: Single sample files with information for all the positions.

Use Cases

Single sample EXOMES files

Single sample GENOMES (gVCF) files

Multi-sample single file per chromosome - Lots of reference genotypes

Aggregated samples data - no genotypes