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Chunk #14 — Results — Identification of somatic mutations in cancer samples

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Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.
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DNA mutations. We considered all variants in a cancer sample that passed statistical assessment (Materials and methods) as potential somatic mutations. We then retained the mutations for which the corresponding position in the germline sample was covered (> 10 reads) and is either 1) identified as not variant by the statistical analysis or 2) shows little evidence of the alternative allele (< 20% alternative allelic ratio). Across the six samples analyzed (2 primary and 4 xenografts samples), we discovered 13 unique somatic mutations. To understand UDT-Seq assay performance, we first examined all mutations by visual inspection of the reads and then independently validated a subset using sequence-based assays (SNaPshot or Sanger).