Identify and Annotate Variants (TAS-HD)

The Identify and Annotate Variants (TAS-HD) template workflow can be used to identify and annotate variants in one sample. This workflow is a combination of the Identify Variants (TAS-HD) and the Annotate Variants (TAS-HD) template workflows.

Sequencing reads provided as input are initially mapped to the human reference sequence. Then a local realignment is carried out to improve the subsequent variant detection analysis. Variants detected are annotated with gene names, amino acid changes, conservation scores, information from relevant variants present in the ClinVar database, and information from common variants present in the common dbSNP Common, HapMap, and 1000 Genomes database. Furthermore, a targeted region report is created to inspect the overall coverage and mapping specificity.

The difference between Identify and Annotate Variants (TAS-HD) and (WES-HD) is that the Auto-detect paired distances option has been switched off in Map Reads to Reference tool in the TAS workflows.



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