Asset Type: Application and Product Notes
March 13, 2023 | Targeted sequencing
Application note — HiFi targeted sequencing and comprehensive analysis of SMN1 2 with Paraphase
January 24, 2023 | Rare disease
Application note — HiFi amplicon sequencing and isoform analysis for Gaucher disease research
October 19, 2022 | Rare disease
Application note — HiFi amplicon sequencing for congenital adrenal hyperplasia
In this Application Note, we focus on HiFi sequencing of full-length PCR amplicons spanning the 3.3 kb CYP21A2 and its pseudogene, CYP21A1P. PacBio HiFi reads are long (up to 25 kb) and accurate (99.9%) making them well suited to analyze the complexity of CAH-related pathogenic variants, where gene conversions and chimeric genes are the predominant mutation types.
October 19, 2022 | Targeted sequencing
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.
October 6, 2022 | Pharmacogenomics
Application note — HiFi amplicon sequencing for pharmacogenetics: CYP2D6
With PacBio® HiFi sequencing, CYP2D6 variation can be captured using highly accurate long reads on a single platform. Amplicon-based HiFi sequencing fully and directly resolves and phases complex loci like CYP2D6 without assembly or inference, allowing for ancestry agnostic haplotype assignment.
July 5, 2022 | Public health + surveillance
Application note — HiFiViral SARS-CoV-2 Kit enables genomic surveillance of COVID-19
The HiFiViral SARS-CoV-2 kit is an end-to-end solution
for genomic surveillance of COVID-19 variants. The kit
utilizes molecular inversion probes (MIPs), a
differentiated enrichment technology which combines
the simplicity and cost-effectiveness of PCR with the
resilience to mutations of target capture. The MIPs
approach, coupled with PacBio HiFi reads and SMRT®
Link software analysis, delivers several advantages
over PCR amplicon sequencing