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README.md

strelka2 validation

Validation runs of strelka2.

Somatic NA12878/NA24385 mixture

A sequenced mixture dataset of two Genome in a Bottle samples simulating a lower frequency set of calls. It has a 90x tumor genome consisting of 30% NA12878 (tumor) and 70% NA24385 (germline) and a 30x normal genome of NA24385. Unique NA12878 variants are somatic variations at 15% and 30%. This is a WGS dataset subset to examine genome wide exome regions along with all of chromosome 20.

NA12878-NA24385

Versions:

  • GRCh37 genome build
  • Strelka 2.8.2
  • GATK4.0b5
  • FreeBayes 1.1.0.46
  • VarDict 1.5.1