Table 2 Suggested steps of reanalysis based on events that have occurred since initial analysis.
From: Best practices for the interpretation and reporting of clinical whole genome sequencing
Tertiary analysis | ||||||
|---|---|---|---|---|---|---|
Change since initial analysis | Primary analysis (sample/library prep and sequencing) | Secondary analysis (mapping, alignment, variant calling, QC) | Annotation | Variant stratification | Variant and gene assessment | Reporting |
Significant improvements in library prep/sequencing technology | ✔ | ✔ | ✔ | ✔ | ✔ | ✔ |
Bioinformatics improvements | ✔ | ✔ | ✔ | ✔ | ✔ | |
>1 year lapsed since initial analysis | ✔ | ✔ | ✔ | ✔ | ||
Additional patient phenotypes or family history | ✔ | ✔ | ✔ | |||
Improved understanding of the genetic etiology of patient condition | ✔ | ✔ | ✔ | |||
New methodology or resource for variant assessment | ✔ | ✔ | ||||
