Description
42Genetics Population is a unique tool implementing the well known concept of using intrinsic population observations to improve variant calling. This in context calling, or Consensus Based Call Enhancement (CBCE) improves both sensitivity and precision. The implementation scales linear from a few to many samples and from one to many nodes.
The variants for a population or cohort are stored in a GVM (42Genetics Variant Map). This is a repository that can be used to manage the samples and to search for patterns in the genetic profile. Using the GVM allows you to play with the data. You can take different groups of samples out of a large GVM into a separate GVM to further enhance the quality of the calls in e.g. a phenotype related cohort.
