Variant detection using target regions
When providing target regions to LightSpeed Fastq to Germline Variants, LightSpeed Fastq to Somatic Variants or LightSpeed Fastq to Somatic Variants Tumor Normal, only variants that overlap the target regions are reported, with the following exceptions:
- Insertions occurring between the last position outside a target region and the first position inside a target region are reported.
- Deletions starting on the first position after a target region are reported. This aligns with VCF format, where the position of deletions are given as the preceding nucleotide, which is then inside the target region.