Fig. 5: Inference of germline variants using tumor-only next generation sequencing. | Modern Pathology

Fig. 5: Inference of germline variants using tumor-only next generation sequencing.

From: Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations

Fig. 5: Inference of germline variants using tumor-only next generation sequencing.

A Observed variant allele fraction compared to expected variant allele fraction for known germline and somatic variants with single copy loss. B Observed variant allele fraction compared to expected variant allele fraction for known somatic and germline variants with copy number neutral loss of heterozygosity. Observed variant allele fractions (circles) and expected variant allele fractions (lines) are shown in red for somatic mutations and blue for germline mutations.

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