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. Author manuscript; available in PMC: 2015 Mar 12.
Published in final edited form as: Fam Cancer. 2015 Mar;14(1):95–103. doi: 10.1007/s10689-014-9755-y

Table 2.

Relative power of each method to detect common alterations

Gene Gene type* Alteration type # Samples altered WES WGS SNP array RNA-Seq
KRAS OG Mut 7 7 (100 %) 7 (100 %) 0 (0 %) 7 (100 %)
TP53 TSG Mut 7 7 (100 %) 7 (100 %) 0 (0 %) 7 (100 %)
HD 0 na na na na
CDKN2A/p16 TSG Mut 3 3 (100 %) 3 (100 %) 0 (0 %) 3 (100 %)
HD 4 4 (100 %) 4** (100 %) 4 (100 %) 4 (100 %)
SMAD4/DPC4 TSG Mut 2 2 (100 %) 2 (100 %) 0 (0 %) 2 (100 %)
HD 4 4 (100 %) 4 (100 %) 4 (100 %) 4 (100 %)
*

OG oncogene, TSG tumor suppressor gene, MUT mutation (includes frameshifting indels and point mutations), HD homozygous deletion, WES whole exome sequencing, WGS whole genome sequencing

**

1 p16 mutation was not reported as an alteration by the standard Illumina pipeline, but visualization of the bam file clearly showed a homozygous deletion