Figure 1. Study design and datasets.

To characterize sequencing artifacts in formalin-fixed, archived diagnostic samples, 13 pairs of patient-matched fresh frozen and formalin-fixed tissue samples were subjected to four popular sequencing approaches: whole exome sequencing (WXS), targeted exon sequencing (TES), whole genome sequencing (WGS), and low-pass whole genome sequencing. In addition, OmniExpress genotype array was used as an orthogonal platform to validate genotype calls.