Exome sequencing of tumors: relevance in copy-number alteration (CNA) analysis and fixed tissue samples.

Genomic DNA has been extracted from both cryopreserved and formalin-fixed paraffin-embedded forms of 2 different tumor samples (triple negative, and Her2+).
Exome sequencing has been performed on all 4 forms, as well as SNP and CNA detection. A comparison of the various metrics and results related to the sequencing, mapping, and variants detection has been done, outlining what can, and can’t be done with exome data sequenced from cryopreserved and FFPE tissue.