Highlights for SEQUENCE Pilot version 5.4.0
- Jump: This new function allows you to directly jump to a genomic position, dbSNP rs number, c.HGVS or position within a gene within your analysis
- WES: In preparation for future WGS analysis, you can now set up a broader exome analysis without needing a bed file. You can also add custom ROIs based on your own mutation database or on certain public DBs (e.g. "listed as pathogenic in ClinVar").
- Fusion: The setup process of the fusion gene analysis has been simplified. Additionally, fusion gene analysis can now also detect intra gene fusions (e.g. MET exon 14 skipping or EGFR variant III)