pipelines-docs

Variant Catalogs

Alignment and variant calling pipelines frequently depend on reference variant catalogs. These catalogs contains known variant sites, such as polymorphic sites for single nucleotides, insertions, or deletions, providing information about genetic variation to improve the accuracy of the models in use.

The pipelines utilize several of these catalogs, specifically the versions built using the GRCh38 Genome Build.

Catalogs

  1. The Single Nucleotide Polymorphism Database: A comprehensive repository documenting single nucleotide changes in genomic DNA.
  2. Mills and 1000 Genomes Gold Standard: A comprehensive catalog documenting insertions and deletions in genomic DNA.

Home - Overview - dbSNP - Mills and 1kGP