Aggregated Somatic Mutation

Description

Aggregated Somatic Mutation is a file type that reports somatic mutations for all of the cases in a project and includes information associated with each mutation.

Overview

Aggregated Somatic Mutation files are generated by aggregating all of the case-level annotated VCFs (each from a single case) associated with a project and variant-calling pipeline1. The GDC used a modified version of the vcf2maf script to generate aggregated somatic mutation files2,3.

Data Formats

Aggregated Somatic Mutation files are available in MAF format. MAF files are tab-delimited and associate each mutation with biologically relevant data. See the GDC MAF File Format documentation for a detailed description of this file type4. Aggregated Somatic Mutation files can be downloaded from the GDC Portal5.

References

  1. GDC Data Dictionary - Aggregated Somatic Mutation
  2. GDC DNA-Seq Documentation
  3. Vcf2maf github
  4. GDC MAF File Format
  5. GDC Portal
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Categories: Data Type