Application note – HiFi amplicon sequencing for Thalassemia
PacBio® HiFi reads are long (up to 25 kb) and accurate (99.9%). Targeted HiFi sequencing of amplicons has the ability to span entire genes, allowing for straightforward haplotype construction, detection of structural variants or copy number variants in addition to SNVs and indels. These attributes make targeted HiFi sequencing well suited to analyze both rare and common variants of all types, thus increasing the positive detection rate of thalassemia-related variants.