Figure 1: Model for tertiary analysis of sequence variants.
From: Good laboratory practice for clinical next-generation sequencing informatics pipelines
The purpose of tertiary analysis is to identify variants to be reported to the physician for medical decision making. The variants identified during secondary analysis are filtered and prioritized, with consideration of their gene associations. ESP, Exome Sequencing Project; WES, whole-exome sequencing; WGS, whole-genome sequencing.
