Asset Tag: Whole Genome Sequencing,
Quick Reference Card — Loading and Pre-Extension Recommendations for the Sequel II and IIe Systems
Application brief — HIFI WGS at scale on the Sequel IIe system
Scale your whole genome sequencing (WGS) and epigenome workflows with PacBio® HiFi reads employing a single technician working one day a week. Sequence 25 human genomes at ≥ 30-fold coverage each month using four Sequel® II systems.*
Procedure & checklist — Preparing whole genome and metagenome sequencing libraries using SMRTbell prep kit 3.0
SFAF NGS Tech Panel (Teaser 2)
The COVID-19 pandemic has brought new focus and resources to pathogen surveillance of all kinds. HiFi sequencing, which combines high accuracy, long read lengths, and single-molecule sequencing, is unique in…
Discoveries Roadshow
After two years apart, we’ve missed you, so we’re coming to a city near you. We are visiting 20 cities across North America and Europe during April and May. Join us…
Unlocking the Genome with Long-Read Sequencing in Genetic Disease Research
Follow two scientists on their journey of discovery using whole genome sequencing and single-cell RNA sequencing to shed light on previously unresolved medical mysteries.
Computational Advances in Genome and Transcriptome Using HiFi Sequencing
PacBio HiFi sequencing has been used to generate the latest and most complete version of the human genome, characterize population-level structural variations, diplotype pharmacogenetic loci, and elucidate complex alternative splicing at the…
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly
Synpolydactyly 1 (SPD; MIM# 186000), also called syndactyly type II (SDTY2), is a genetic limb malformation characterized by polydactyly with syndactyly involving the webbing of the third and fourth fingers, and the fourth and fifth toes. It is caused by heterozygous alterations in HOXD13 with incomplete penetrance and phenotypic variability. In our study, a five-generation family with an SPD phenotype was enrolled in our Rare Disease Genomics Protocol. A comprehensive examination of three generations using Illumina short-read whole-genome sequencing (WGS) did not identify any causative variants. Subsequent WGS using Pacific Biosciences (PacBio) long-read HiFi Circular Consensus Sequencing (CCS) revealed a heterozygous 27-bp duplication in the polyalanine tract of HOXD13. Sanger sequencing of all available family members confirmed that the variant segregates with affected individuals. Re-analysis of an unrelated family with a similar SPD phenotype uncovered a 21-bp (7-alanine) duplication in the same region of HOXD13. Although ExpansionHunter identified these events in most individuals in a retrospective analysis, low sequence coverage due to high GC content in the HOXD13 polyalanine tract makes detection of these events challenging. Our findings highlight the value of long-read WGS in elucidating the molecular etiology of congenital limb malformation disorders.
PacBio HiFiViral SARS-CoV-2 Kit
We created the HiFiViral SARS-CoV-2 Kit for labs working on the front line of the COVID-19 pandemic — tracking and identifying the spread of novel variants in their communities. The…
Brochure — SMRT Sequencing: Delivering highly accurate long reads to drive discovery in life science
Learn how Single Molecule, Real-Time (SMRT) Sequencing and the Sequel IIe System and will accelerate your research by delivering highly accurate long reads to provide the most comprehensive view of genomes, transcriptomes and epigenomes.
Application brochure — What can you do with one SMRT Cell?
With PacBio Single Molecule, Real-Time (SMRT) Sequencing on the Sequel IIe System you can characterize whole genomes and transcriptomes with just one SMRT Cell. Explore our applications and pricing to get your sequencing project started.
Application brief — Microbial whole genome sequencing
With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel Systems, you can affordably assemble reference-quality microbial genomes that are >99.999% (Q50) accurate.