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Aliquot Ensemble Somatic Variant Merging and Masking

Description

Aliquot Ensemble Somatic Variant Merging and Masking is an aggregation pipeline used in GDC whole exome sequencing (WXS) and targeted sequencing harmonization.

Overview

The Aliquot Ensemble Somatic Variant Merging and Masking workflow in the GDC harmonizes whole exome sequencing (WXS) and targeted sequencing data by merging multiple MAFs that were each generated by one variant caller. This workflow consists of Somatic Aggregation and Masked Somatic Aggregation, which respectively generate comprehensive mutation annotation files (MAFs) and produce filtered, public-access MAFs by removing potentially identifiable germline mutation information.

Input

  • Tumor MAF - WXS or Targeted Sequencing
  • Normal MAF - WXS or Targeted Sequencing

Output

  • MAF (Data Type: Masked Somatic Mutation, Aggregated Somatic Mutation)

References

  1. DNA Seq Processing at the GDC
  2. Somatic Aggregation Workflow
  3. Masked Somatic Aggregation Workflow

Categories: Workflow Type