2015 ASHG: Flying Blind: Building a Cancer Genomic Standard

A major challenge in gaging the accuracy of genome sequencing assays and analyses is the choice of a gold standard reference that can be used as “ground truth”. While great strides have been made in creating a reference standard for germline genome sequencing, these “normal” reference standards are not adequate for cancer sequencing and analysis. Cancer has unique features, including tumor heterogeneity, sample purity issues, fixation with formalin, and unusual variant types such as gene fusions and complex copy number alterations (CNAs).