March 12, 2024 | Targeted sequencing
Asset Type: Application and product notes
December 11, 2023 | Microbial sequencing methods
Application note — Kinnex 16S rRNA kit for full-length 16S sequencing
November 9, 2023 | Cancer research
Application note — Robust detection of somatic variants from tumor-normal samples with highly accurate long-read whole genome sequencing
October 31, 2023 | RNA sequencing
Application note — Kinnex full-length RNA kit for isoform sequencing
October 31, 2023 | RNA sequencing
Application note — Kinnex single-cell RNA kit for single-cell isoform sequencing
October 31, 2023 | RNA sequencing
Application note — Bioinformatics tools for full length isoform sequencing
October 11, 2023 | Products, procedures + protocols
Application note — Consolidated analysis tools with the PacBio WGS Variant Pipeline
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 | Human genetics research
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.